#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MST1L	11223	broad.mit.edu	37	1	17084269	17084269	+	RNA	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr1:17084269G>A	ENST00000455405.2	-	0	539							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.A583V(1)									ACCCCAGCCTGCAATCTCACA	0.582																																							uc010ock.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1747-1749)GCA>GTA		SubName: Full=Hepatocyte growth factor-like protein homolog;																																						11223							g.chr1:17084269G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084269G>A						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Missense_Mutation_p.A183V	p.A583V	NR_002729						13	1748	-								B7WPB1|Q13209	Missense_Mutation	SNP	ENST00000455405.2	37	c.1748C>T		.	.	.	.	.	.	.	.	.	.	.	12.34	1.908191	0.33721	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.169554	0.27981	N	0.017080	T	0.62829	0.2460	.	.	.	.	.	.	D;D	0.71674	0.979;0.998	P;D	0.63033	0.801;0.91	T	0.69881	-0.5025	5	0.40728	T	0.16	.	.	.	.	.	583;609	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	V	583;609	.	ENSP00000439273:A583V	A	-	2	0	MST1P9	16956856	1.000000	0.71417	0.995000	0.50966	0.000000	0.00434	5.747000	0.68689	0.502000	0.28037	0.000000	0.15137	GCA		0.582	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		7	700	0	0	0	0.001984	0	7	700				
SLC6A9	6536	broad.mit.edu	37	1	44474144	44474144	+	Silent	SNP	G	G	A	rs200658319		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr1:44474144G>A	ENST00000360584.2	-	5	881	c.690C>T	c.(688-690)gcC>gcT	p.A230A	SLC6A9_ENST00000492434.2_5'Flank|SLC6A9_ENST00000372310.3_Silent_p.A157A|SLC6A9_ENST00000357730.2_Silent_p.A176A|SLC6A9_ENST00000537678.1_Silent_p.A92A|SLC6A9_ENST00000372306.3_Silent_p.A157A|SLC6A9_ENST00000475075.2_Silent_p.A46A|SLC6A9_ENST00000372307.3_Silent_p.A92A	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	230					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A230A(1)|p.A157A(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCAGTACACCGGCGCAGTCAT	0.607																																							uc001cll.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(688-690)GCC>GCT		solute carrier family 6 member 9 isoform 2	Glycine(DB00145)	G	,,	1,4405	2.1+/-5.4	0,1,2202	139.0	124.0	129.0		471,528,690	-7.9	0.0	1		129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC6A9	NM_001024845.1,NM_006934.2,NM_201649.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	157/634,176/653,230/707	44474144	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44474144G>A	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.690C>T	1.37:g.44474144G>A						SLC6A9_uc009vxe.2_Silent_p.A86A|SLC6A9_uc010okm.1_Silent_p.A157A|SLC6A9_uc001clm.2_Silent_p.A176A|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.A161A|SLC6A9_uc001cln.2_Silent_p.A157A|SLC6A9_uc010oko.1_Silent_p.A46A|SLC6A9_uc010okp.1_RNA	p.A230A	NM_201649	NP_964012	P48067	SC6A9_HUMAN			5	882	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	230			Extracellular (Potential).		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.690C>T	CCDS41317.1																																																																																				0.607	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		21	170	0	0	0	0.002299	0	21	170				
BRINP3	339479	broad.mit.edu	37	1	190067976	190067976	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr1:190067976G>A	ENST00000367462.3	-	8	1704	c.1473C>T	c.(1471-1473)gaC>gaT	p.D491D	BRINP3_ENST00000534846.1_Silent_p.D389D	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	491					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.D491D(1)									GATCTTGCAGGTCAGTTTCAA	0.517																																							uc001gse.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1471-1473)GAC>GAT		family with sequence similarity 5, member C							161.0	159.0	160.0					1																	190067976		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067976G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1473C>T	1.37:g.190067976G>A						FAM5C_uc010pot.1_Silent_p.D389D	p.D491D	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1705	-	Prostate(682;0.198)		491					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1473C>T	CCDS1373.1																																																																																				0.517	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		33	316	0	0	0	0.002836	0	33	316				
FAM58BP	339521	broad.mit.edu	37	1	200182895	200182895	+	IGR	SNP	G	G	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr1:200182895G>T								NR5A2 (36343 upstream) : RP11-532L16.3 (101667 downstream)																							AGACCATCCTGGACGCCTTTG	0.527																																							uc009wzi.1		NA																	0					0						c.(202-204)CTG>CTT		family with sequence similarity 58 member B							199.0	187.0	191.0					1																	200182895		2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200182895G>T																													1.37:g.200182895G>T							p.L68L	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	240	+	Prostate(682;0.19)		68						Silent	SNP		37	c.204G>T																																																																																				0	0.527									12	305	1	0	0.000978159	0.000978	0.00119412	12	305				
C1orf106	55765	broad.mit.edu	37	1	200868613	200868613	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr1:200868613C>T	ENST00000367342.4	+	3	523	c.323C>T	c.(322-324)cCg>cTg	p.P108L	C1orf106_ENST00000413687.2_Missense_Mutation_p.P23L	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	108								p.P108L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCCGACAGCCCGGTCTCCCCA	0.622																																							uc001gvo.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(322-324)CCG>CTG		hypothetical protein LOC55765 isoform 1							37.0	40.0	39.0					1																	200868613		2203	4300	6503	SO:0001583	missense	55765							g.chr1:200868613C>T	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.323C>T	1.37:g.200868613C>T	ENSP00000356311:p.Pro108Leu					C1orf106_uc010ppm.1_Missense_Mutation_p.P23L	p.P108L	NM_018265	NP_060735	Q3KP66	CA106_HUMAN			3	353	+			108					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37	c.323C>T		.	.	.	.	.	.	.	.	.	.	c	19.94	3.920261	0.73098	.	.	ENSG00000163362	ENST00000532631;ENST00000451872;ENST00000367342;ENST00000413687	T;T	0.50813	0.73;0.78	4.93	4.93	0.64822	.	0.063556	0.64402	D	0.000005	T	0.66781	0.2824	M	0.65975	2.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.70633	-0.4818	10	0.87932	D	0	-30.279	15.0702	0.72030	0.0:1.0:0.0:0.0	.	108	Q3KP66	CA106_HUMAN	L	23;23;108;23	ENSP00000356311:P108L;ENSP00000392105:P23L	ENSP00000356311:P108L	P	+	2	0	C1orf106	199135236	1.000000	0.71417	0.938000	0.37757	0.676000	0.39594	5.899000	0.69846	2.293000	0.77203	0.479000	0.44913	CCG		0.622	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		17	99	0	0	0	0.006122	0	17	99				
DUSP10	11221	broad.mit.edu	37	1	221875902	221875902	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr1:221875902G>A	ENST00000366899.3	-	4	1539	c.1301C>T	c.(1300-1302)gCt>gTt	p.A434V	DUSP10_ENST00000323825.3_Missense_Mutation_p.A92V|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.A92V	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	434	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A434V(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		AAATTTATAAGCATCAGTCAT	0.507																																							uc001hmy.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(1300-1302)GCT>GTT		dual specificity phosphatase 10 isoform a							204.0	185.0	191.0					1																	221875902		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221875902G>A	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.1301C>T	1.37:g.221875902G>A	ENSP00000355866:p.Ala434Val					DUSP10_uc001hmx.1_Missense_Mutation_p.A92V|DUSP10_uc001hmz.1_Missense_Mutation_p.A92V	p.A434V	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	4	1483	-			434			Tyrosine-protein phosphatase.		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.1301C>T	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117886	0.94385	.	.	ENSG00000143507	ENST00000366899;ENST00000418487;ENST00000323825;ENST00000544095	D;D;D	0.92495	-3.05;-3.05;-3.05	5.72	5.72	0.89469	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.97062	0.9040	M	0.93507	3.425	0.80722	D	1	D	0.76494	0.999	P	0.62649	0.905	D	0.97301	0.9931	10	0.72032	D	0.01	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	434	Q9Y6W6	DUS10_HUMAN	V	434;379;92;92	ENSP00000355866:A434V;ENSP00000322015:A92V;ENSP00000441302:A92V	ENSP00000322015:A92V	A	-	2	0	DUSP10	219942525	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	GCT		0.507	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		16	149	0	0	0	0.004007	0	16	149				
OR6F1	343169	broad.mit.edu	37	1	247875225	247875225	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr1:247875225T>A	ENST00000302084.2	-	1	880	c.833A>T	c.(832-834)aAc>aTc	p.N278I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N278I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CACCACAGTGTTCAGGACGTG	0.458																																							uc001idj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(832-834)AAC>ATC		olfactory receptor, family 6, subfamily F,							122.0	119.0	120.0					1																	247875225		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875225T>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.833A>T	1.37:g.247875225T>A	ENSP00000305640:p.Asn278Ile						p.N278I	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	833	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		278			Helical; Name=7; (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.833A>T	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.539392	0.27475	.	.	ENSG00000169214	ENST00000302084	T	0.00051	8.81	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000219	T	0.00328	0.0010	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54050	-0.8351	10	0.27785	T	0.31	-40.8354	7.6772	0.28492	0.189:0.0:0.0:0.811	.	278	Q8NGZ6	OR6F1_HUMAN	I	278	ENSP00000305640:N278I	ENSP00000305640:N278I	N	-	2	0	OR6F1	245941848	0.012000	0.17670	0.004000	0.12327	0.005000	0.04900	1.833000	0.39161	1.574000	0.49760	0.482000	0.46254	AAC		0.458	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		31	162	0	0	0	0.002445	0	31	162				
LARP4B	23185	broad.mit.edu	37	10	876909	876909	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr10:876909T>G	ENST00000316157.3	-	8	799	c.759A>C	c.(757-759)gaA>gaC	p.E253D		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	253	RRM.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.E253D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAAATAGTGCTTCTACTTCCT	0.284																																							uc001ifs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(757-759)GAA>GAC		La ribonucleoprotein domain family, member 4B							69.0	77.0	75.0					10																	876909		2201	4298	6499	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:876909T>G	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.759A>C	10.37:g.876909T>G	ENSP00000326128:p.Glu253Asp						p.E253D	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			8	800	-			253			RRM.		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.759A>C	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.634955	0.67130	.	.	ENSG00000107929	ENST00000316157	T	0.36878	1.23	5.08	3.95	0.45737	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.58509	0.2127	M	0.76838	2.35	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.60752	-0.7201	10	0.62326	D	0.03	-10.3969	10.8862	0.46968	0.0:0.0742:0.0:0.9258	.	253	Q92615	LAR4B_HUMAN	D	253	ENSP00000326128:E253D	ENSP00000326128:E253D	E	-	3	2	LARP4B	866909	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.775000	0.55349	0.897000	0.36392	-0.371000	0.07208	GAA		0.284	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		3	37	0	0	0	0.004672	0	3	37				
ZNF408	79797	broad.mit.edu	37	11	46726804	46726804	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr11:46726804C>T	ENST00000311764.2	+	5	1784	c.1554C>T	c.(1552-1554)caC>caT	p.H518H		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.H518H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCGGCTCCACACCGGGGAGC	0.642																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	uc001nde.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1552-1554)CAC>CAT		zinc finger protein 408							52.0	47.0	48.0					11																	46726804		2198	4296	6494	SO:0001819	synonymous_variant	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726804C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1554C>T	11.37:g.46726804C>T						ZNF408_uc010rgw.1_Silent_p.H510H	p.H518H	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN			5	1784	+			518			C2H2-type 6.			Silent	SNP	ENST00000311764.2	37	c.1554C>T	CCDS7923.1																																																																																				0.642	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		14	131	0	0	0	0.003163	0	14	131				
AHNAK	79026	broad.mit.edu	37	11	62289394	62289394	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr11:62289394G>A	ENST00000378024.4	-	5	12769	c.12495C>T	c.(12493-12495)atC>atT	p.I4165I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4165					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.I4165I(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGGCCCTTGATGTCAACTT	0.512																																							uc001ntl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(12493-12495)ATC>ATT		AHNAK nucleoprotein isoform 1							122.0	125.0	124.0					11																	62289394		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62289394G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12495C>T	11.37:g.62289394G>A						AHNAK_uc001ntk.1_Intron	p.I4165I	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	12795	-		Melanoma(852;0.155)	4165					A1A586	Silent	SNP	ENST00000378024.4	37	c.12495C>T	CCDS31584.1																																																																																				0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		42	287	0	0	0	0.006999	0	42	287				
TECTA	7007	broad.mit.edu	37	11	120996044	120996044	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr11:120996044T>G	ENST00000392793.1	+	8	1508	c.1237T>G	c.(1237-1239)Tta>Gta	p.L413V	TECTA_ENST00000264037.2_Missense_Mutation_p.L413V			O75443	TECTA_HUMAN	tectorin alpha	413	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.L413V(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCTGTCACCTTAGACTTGGG	0.498																																							uc010rzo.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(1237-1239)TTA>GTA		tectorin alpha precursor							153.0	155.0	154.0					11																	120996044		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996044T>G	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1237T>G	11.37:g.120996044T>G	ENSP00000376543:p.Leu413Val						p.L413V	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1237	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	413			VWFD 1.			Missense_Mutation	SNP	ENST00000392793.1	37	c.1237T>G	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.322165	0.41096	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59364	0.27;0.27	4.58	2.14	0.27477	von Willebrand factor, type D domain (3);	0.086699	0.43416	D	0.000575	T	0.50650	0.1628	M	0.70108	2.13	0.34615	D	0.717978	B	0.23735	0.09	B	0.29785	0.107	T	0.58451	-0.7634	10	0.42905	T	0.14	.	3.3505	0.07150	0.1705:0.2321:0.0:0.5975	.	413	O75443	TECTA_HUMAN	V	413	ENSP00000376543:L413V;ENSP00000264037:L413V	ENSP00000264037:L413V	L	+	1	2	TECTA	120501254	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.136000	0.31467	1.850000	0.53721	0.379000	0.24179	TTA		0.498	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		42	355	0	0	0	0.00874	0	42	355				
GRIN2B	2904	broad.mit.edu	37	12	13769453	13769453	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr12:13769453C>T	ENST00000609686.1	-	5	1473	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	422					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V422M(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGAGGGTCCACACTTTCCACA	0.527																																							uc001rbt.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(1264-1266)GTG>ATG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						210.0	179.0	189.0					12																	13769453		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13769453C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1264G>A	12.37:g.13769453C>T	ENSP00000477455:p.Val422Met						p.V422M	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			5	1443	-			422			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1264G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893297	0.91889	.	.	ENSG00000150086	ENST00000279593	T	0.14391	2.51	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	M	0.69185	2.1	0.80722	D	1	D	0.57571	0.98	P	0.55615	0.78	T	0.01626	-1.1309	10	0.59425	D	0.04	.	19.4657	0.94939	0.0:1.0:0.0:0.0	.	422	Q13224	NMDE2_HUMAN	M	422	ENSP00000279593:V422M	ENSP00000279593:V422M	V	-	1	0	GRIN2B	13660720	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.813000	0.86123	2.579000	0.87056	0.563000	0.77884	GTG		0.527	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			5	142	0	0	0	0.001168	0	5	142				
ACVR1B	91	broad.mit.edu	37	12	52377803	52377803	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr12:52377803C>G	ENST00000257963.4	+	5	909	c.832C>G	c.(832-834)Ctg>Gtg	p.L278V	ACVR1B_ENST00000542485.1_Missense_Mutation_p.L226V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.L278V|ACVR1B_ENST00000541224.1_Missense_Mutation_p.L319V|ACVR1B_ENST00000415850.2_Missense_Mutation_p.L278V	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.L319V(1)|p.L278V(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTGGACACAGCTGTGGCTTGT	0.463																																							uc001rzn.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9						c.(832-834)CTG>GTG		activin A receptor, type IB isoform a precursor	Adenosine triphosphate(DB00171)						109.0	92.0	98.0					12																	52377803		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52377803C>G		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.832C>G	12.37:g.52377803C>G	ENSP00000257963:p.Leu278Val					ACVR1B_uc001rzl.2_Missense_Mutation_p.L278V|ACVR1B_uc001rzm.2_Missense_Mutation_p.L278V|ACVR1B_uc010snn.1_Missense_Mutation_p.L319V	p.L278V	NM_004302	NP_004293	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	5	874	+			278			Protein kinase.|Cytoplasmic (Potential).		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.832C>G	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705045	0.68615	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.79816	0.4511	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.994;0.997	D;D;D;D	0.80764	0.987;0.994;0.955;0.976	T	0.81551	-0.0881	10	0.87932	D	0	.	9.8976	0.41329	0.0:0.8476:0.0:0.1524	.	319;278;278;278	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	V	278;319;278;278;226	ENSP00000257963:L278V;ENSP00000442656:L319V;ENSP00000390477:L278V;ENSP00000397550:L278V;ENSP00000442885:L226V	ENSP00000257963:L278V	L	+	1	2	ACVR1B	50664070	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.762000	0.47597	2.621000	0.88768	0.655000	0.94253	CTG		0.463	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		4	37	0	0	0	0.00308	0	4	37				
PTPRB	5787	broad.mit.edu	37	12	70938424	70938424	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr12:70938424T>C	ENST00000261266.5	-	20	4782	c.4753A>G	c.(4753-4755)Aca>Gca	p.T1585A	PTPRB_ENST00000538708.1_Missense_Mutation_p.T1495A|PTPRB_ENST00000451516.2_Missense_Mutation_p.T1495A|PTPRB_ENST00000334414.6_Missense_Mutation_p.T1803A|PTPRB_ENST00000550857.1_Missense_Mutation_p.T1495A|PTPRB_ENST00000550358.1_Missense_Mutation_p.T1715A	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1585					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T1585A(2)|p.T1803A(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAGAGCTGTGTAAAAGCTCGA	0.358																																							uc001swb.3		NA																	3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(4753-4755)ACA>GCA		protein tyrosine phosphatase, receptor type, B							104.0	97.0	99.0					12																	70938424		1827	4085	5912	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70938424T>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4753A>G	12.37:g.70938424T>C	ENSP00000261266:p.Thr1585Ala					PTPRB_uc010sto.1_Missense_Mutation_p.T1495A|PTPRB_uc010stp.1_Missense_Mutation_p.T1495A|PTPRB_uc001swc.3_Missense_Mutation_p.T1803A|PTPRB_uc001swa.3_Missense_Mutation_p.T1715A	p.T1585A	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		20	4783	-	Renal(347;0.236)		1585			Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4753A>G	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.966916	0.74131	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.78003	0.34;0.34;0.34;-1.14;0.34;0.34	5.44	5.44	0.79542	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	D	0.87637	0.6227	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.999	D	0.89176	0.3540	10	0.87932	D	0	.	15.5053	0.75735	0.0:0.0:0.0:1.0	.	1495;1495;1803;1585;1715	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	A	1803;1495;1715;1495;1495;1585	ENSP00000334928:T1803A;ENSP00000393028:T1495A;ENSP00000448058:T1715A;ENSP00000438927:T1495A;ENSP00000447302:T1495A;ENSP00000261266:T1585A	ENSP00000261266:T1585A	T	-	1	0	PTPRB	69224691	1.000000	0.71417	0.999000	0.59377	0.710000	0.40934	7.001000	0.76297	2.073000	0.62155	0.477000	0.44152	ACA		0.358	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			4	29	0	0	0	0.000602	0	4	29				
CEP290	80184	broad.mit.edu	37	12	88486598	88486598	+	Silent	SNP	G	G	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr12:88486598G>T	ENST00000552810.1	-	29	3664	c.3321C>A	c.(3319-3321)atC>atA	p.I1107I	CEP290_ENST00000309041.7_Silent_p.I1109I|CEP290_ENST00000547691.2_Silent_p.I167I|CEP290_ENST00000397838.3_Silent_p.I167I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1107					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.I1109I(2)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATCCAAATTGATTTTGGTAA	0.353																																							uc001tar.2		NA																	2	Substitution - coding silent(2)	p.I1109I(1)	lung(1)|pancreas(1)	ovary(5)|breast(1)|pancreas(1)	7						c.(3319-3321)ATC>ATA		centrosomal protein 290kDa							199.0	186.0	190.0					12																	88486598		1891	4116	6007	SO:0001819	synonymous_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88486598G>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3321C>A	12.37:g.88486598G>T						CEP290_uc001taq.2_Silent_p.I167I	p.I1107I	NM_025114	NP_079390	O15078	CE290_HUMAN			29	3665	-			1107			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	c.3321C>A	CCDS55858.1																																																																																				0.353	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		18	94	1	0	1.2644e-06	0.001523	1.674e-06	18	94				
FAM179B	23116	broad.mit.edu	37	14	45433195	45433195	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr14:45433195G>A	ENST00000361577.3	+	1	1785	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.R524H|KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.R524H|KLHL28_ENST00000355081.2_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	524								p.R524H(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GATAGCAAACGCAGGGTACGC	0.463																																							uc001wvv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)	3						c.(1570-1572)CGC>CAC		hypothetical protein LOC23116							124.0	114.0	117.0					14																	45433195		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45433195G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1571G>A	14.37:g.45433195G>A	ENSP00000355045:p.Arg524His					FAM179B_uc001wvw.2_Missense_Mutation_p.R524H|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R524H|FAM179B_uc001wvu.2_Missense_Mutation_p.R524H	p.R524H	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			1	1780	+			524			HEAT 4.		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1571G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072547	0.76415	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.79749	-1.3;-1.3;-1.3	4.59	3.65	0.41850	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	D	0.87958	0.6309	M	0.70595	2.14	0.53005	D	0.999963	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.996;0.998;0.998;0.996	D	0.89105	0.3492	10	0.72032	D	0.01	-4.0239	13.8015	0.63204	0.0:0.0:0.8467:0.1533	.	524;524;524;524	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	H	524	ENSP00000355045:R524H;ENSP00000354917:R524H;ENSP00000371668:R524H	ENSP00000354917:R524H	R	+	2	0	FAM179B	44502945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.426000	0.59882	2.379000	0.81126	0.561000	0.74099	CGC		0.463	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		5	175	0	0	0	0.000602	0	5	175				
PPIB	5479	broad.mit.edu	37	15	64455120	64455120	+	Silent	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr15:64455120G>C	ENST00000300026.3	-	1	284	c.66C>G	c.(64-66)gtC>gtG	p.V22V	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	22					bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)	p.V22V(1)		kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	GCAGGAAGAAGACGGACCCCG	0.647																																					GBM(105;399 1481 32889 33051 36637)	GBM(105;399 1481 32889 33051 36637)	uc002and.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)GTC>GTG		peptidylprolyl isomerase B precursor	L-Proline(DB00172)						25.0	29.0	27.0					15																	64455120		2203	4300	6503	SO:0001819	synonymous_variant	5479				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr15:64455120G>C		CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.66C>G	15.37:g.64455120G>C						PPIB_uc010bgx.1_Silent_p.V14V	p.V22V	NM_000942	NP_000933	P23284	PPIB_HUMAN			1	235	-			22					A8K534|Q6IBH5|Q9BVK5	Silent	SNP	ENST00000300026.3	37	c.66C>G	CCDS10191.1																																																																																				0.647	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1			4	39	0	0	0	0.000602	0	4	39				
LCTL	197021	broad.mit.edu	37	15	66853375	66853375	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr15:66853375C>A	ENST00000341509.5	-	6	805	c.674G>T	c.(673-675)gGc>gTc	p.G225V	LCTL_ENST00000563438.1_5'Flank|LCTL_ENST00000537670.1_Missense_Mutation_p.G52V	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	225					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.G225V(3)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTGTACAGGCCGGTGCCGCG	0.602																																							uc002aqc.2		NA																	3	Substitution - Missense(3)		prostate(2)|kidney(1)	ovary(2)	2						c.(673-675)GGC>GTC		lactase-like precursor							64.0	61.0	62.0					15																	66853375		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66853375C>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.674G>T	15.37:g.66853375C>A	ENSP00000343490:p.Gly225Val					LCTL_uc002aqd.3_Missense_Mutation_p.G52V|LCTL_uc010bhw.2_Intron	p.G225V	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN			6	806	-			225			Extracellular (Potential).		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.674G>T	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960240	0.74016	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.52754	0.65;1.49	5.38	5.38	0.77491	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62969	-0.6741	10	0.44086	T	0.13	-35.5197	18.487	0.90833	0.0:1.0:0.0:0.0	.	225	Q6UWM7	LCTL_HUMAN	V	52;225	ENSP00000445419:G52V;ENSP00000343490:G225V	ENSP00000343490:G225V	G	-	2	0	LCTL	64640429	0.998000	0.40836	0.991000	0.47740	0.630000	0.37929	5.425000	0.66470	2.689000	0.91719	0.655000	0.94253	GGC		0.602	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		9	111	1	0	9.31168e-06	0.001855	1.16706e-05	9	111				
SNX33	257364	broad.mit.edu	37	15	75949488	75949488	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr15:75949488C>A	ENST00000308527.5	+	2	2854	c.1657C>A	c.(1657-1659)Cag>Aag	p.Q553K		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	553	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTTGCGCCAGCAGATCCTCTT	0.627																																							uc002bau.2		NA																	0				ovary(1)	1						c.(1657-1659)CAG>AAG		sorting nexin 33							124.0	111.0	115.0					15																	75949488		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75949488C>A	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1657C>A	15.37:g.75949488C>A	ENSP00000311427:p.Gln553Lys					SNX33_uc002bav.2_Missense_Mutation_p.Q166K	p.Q553K	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN			2	1753	+			553			BAR.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.1657C>A	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020795	0.54576	.	.	ENSG00000173548	ENST00000308527	T	0.56611	0.45	5.41	5.41	0.78517	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	M	0.81341	2.54	0.80722	D	1	P;P	0.45715	0.865;0.865	P;P	0.45428	0.48;0.48	T	0.70757	-0.4785	10	0.72032	D	0.01	-0.5401	18.1837	0.89786	0.0:1.0:0.0:0.0	.	553;553	B1NM17;Q8WV41	.;SNX33_HUMAN	K	553	ENSP00000311427:Q553K	ENSP00000311427:Q553K	Q	+	1	0	SNX33	73736543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.581000	0.82535	2.526000	0.85167	0.591000	0.81541	CAG		0.627	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		9	271	1	0	6.40141e-05	0.000978	7.91753e-05	9	271				
KIAA1024	23251	broad.mit.edu	37	15	79749775	79749775	+	Missense_Mutation	SNP	C	C	A	rs371873445		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr15:79749775C>A	ENST00000305428.3	+	2	1361	c.1286C>A	c.(1285-1287)gCg>gAg	p.A429E		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	429						integral component of membrane (GO:0016021)		p.A429E(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ATTGCTTATGCGGCAAAACAA	0.473																																							uc002bew.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(1285-1287)GCG>GAG		hypothetical protein LOC23251							65.0	68.0	67.0					15																	79749775		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79749775C>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1286C>A	15.37:g.79749775C>A	ENSP00000307461:p.Ala429Glu					KIAA1024_uc010unk.1_Missense_Mutation_p.A429E	p.A429E	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	1361	+			429					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.1286C>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	4.175	0.031119	0.08101	.	.	ENSG00000169330	ENST00000305428	T	0.36520	1.25	5.14	-0.00273	0.14028	.	0.561913	0.20695	N	0.087391	T	0.26521	0.0648	L	0.51422	1.61	0.09310	N	1	B	0.24186	0.099	B	0.24974	0.057	T	0.17471	-1.0368	9	.	.	.	.	5.8821	0.18862	0.0:0.5409:0.1222:0.3369	.	429	Q9UPX6	K1024_HUMAN	E	429	ENSP00000307461:A429E	.	A	+	2	0	KIAA1024	77536830	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.920000	0.28705	-0.270000	0.09285	-0.333000	0.08304	GCG		0.473	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		21	154	1	0	3.28513e-13	0.003954	4.5412e-13	21	154				
CEMIP	57214	broad.mit.edu	37	15	81235319	81235319	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr15:81235319G>A	ENST00000394685.3	+	28	4152	c.3733G>A	c.(3733-3735)Ggc>Agc	p.G1245S	KIAA1199_ENST00000220244.3_Missense_Mutation_p.G1245S|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G1245S			Q8WUJ3	CEMIP_HUMAN		1245					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.G1245S(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCGGAGGATGGCATCCAGGT	0.582																																							uc002bfw.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(3733-3735)GGC>AGC		KIAA1199 precursor							313.0	278.0	290.0					15																	81235319		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81235319G>A																												ENST00000394685.3:c.3733G>A	15.37:g.81235319G>A	ENSP00000378177:p.Gly1245Ser					KIAA1199_uc010unn.1_Missense_Mutation_p.G1245S	p.G1245S	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			27	3993	+			1245					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.3733G>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995908	0.93167	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	D;D;D	0.84370	-1.84;-1.84;-1.84	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.92446	0.7602	M	0.75264	2.295	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.93039	0.6455	10	0.87932	D	0	-32.2585	19.1834	0.93632	0.0:0.0:1.0:0.0	.	1245	Q8WUJ3	K1199_HUMAN	S	1245	ENSP00000220244:G1245S;ENSP00000378177:G1245S;ENSP00000348583:G1245S	ENSP00000220244:G1245S	G	+	1	0	KIAA1199	79022374	1.000000	0.71417	0.904000	0.35570	0.457000	0.32468	8.515000	0.90548	2.521000	0.84997	0.591000	0.81541	GGC		0.582	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			98	687	0	0	0	0.00361	0	98	687				
FSD2	123722	broad.mit.edu	37	15	83451620	83451620	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr15:83451620T>A	ENST00000334574.8	-	4	1074	c.893A>T	c.(892-894)aAc>aTc	p.N298I	FSD2_ENST00000541889.1_Missense_Mutation_p.N298I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	298								p.N298I(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AGTATCTAGGTTTTCTCCACA	0.378																																							uc002bjd.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(892-894)AAC>ATC		fibronectin type III and SPRY domain containing							297.0	279.0	285.0					15																	83451620		1877	4106	5983	SO:0001583	missense	123722							g.chr15:83451620T>A	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.893A>T	15.37:g.83451620T>A	ENSP00000335651:p.Asn298Ile					FSD2_uc010uol.1_Missense_Mutation_p.N298I|FSD2_uc010uom.1_Missense_Mutation_p.N298I	p.N298I	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN			4	1060	-			298			Potential.		B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.893A>T	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688100	0.68271	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.62941	0.44;-0.01	6.04	4.92	0.64577	.	0.221391	0.47455	D	0.000235	T	0.69993	0.3173	L	0.60455	1.87	0.30749	N	0.745356	D;D	0.65815	0.985;0.995	P;P	0.62184	0.84;0.899	T	0.70278	-0.4916	10	0.42905	T	0.14	-34.8892	8.5281	0.33317	0.0:0.1466:0.0:0.8534	.	298;298	B7ZM02;A1L4K1	.;FSD2_HUMAN	I	298	ENSP00000335651:N298I;ENSP00000444078:N298I	ENSP00000335651:N298I	N	-	2	0	FSD2	81248674	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	3.370000	0.52372	1.115000	0.41800	0.459000	0.35465	AAC		0.378	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		7	550	0	0	0	0.001984	0	7	550				
ACAN	176	broad.mit.edu	37	15	89400783	89400783	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr15:89400783T>A	ENST00000561243.1	+	11	4967	c.4967T>A	c.(4966-4968)tTc>tAc	p.F1656Y	ACAN_ENST00000352105.7_Missense_Mutation_p.F1656Y|ACAN_ENST00000439576.2_Missense_Mutation_p.F1656Y|ACAN_ENST00000559004.1_Missense_Mutation_p.F1656Y			P16112	PGCA_HUMAN	aggrecan	1697	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.F1542Y(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCATCTGGATTCCCAACTGTT	0.532																																							uc010upo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(4966-4968)TTC>TAC		aggrecan isoform 2 precursor							142.0	144.0	143.0					15																	89400783		1950	4130	6080	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400783T>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4967T>A	15.37:g.89400783T>A	ENSP00000453342:p.Phe1656Tyr					ACAN_uc010upp.1_Missense_Mutation_p.F1656Y|ACAN_uc002bna.2_RNA	p.F1656Y	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5341	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1656					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4967T>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.902870	0.72754	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03358	4.22;3.96	5.86	5.86	0.93980	.	0.000000	0.33980	N	0.004375	T	0.18383	0.0441	M	0.80183	2.485	0.31089	N	0.711057	D;D	0.71674	0.998;0.996	D;P	0.64877	0.93;0.876	T	0.03597	-1.1021	10	0.72032	D	0.01	-11.3724	15.4362	0.75149	0.0:0.0:0.0:1.0	.	1656;1656	E7ENV9;E7EX88	.;.	Y	1656;1656;1542	ENSP00000387356:F1656Y;ENSP00000341615:F1656Y	ENSP00000268134:F1542Y	F	+	2	0	ACAN	87201787	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	4.221000	0.58574	2.240000	0.73641	0.533000	0.62120	TTC		0.532	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		7	402	0	0	0	0.00308	0	7	402				
SLC5A2	6524	broad.mit.edu	37	16	31499014	31499014	+	Silent	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr16:31499014T>C	ENST00000330498.3	+	7	838	c.819T>C	c.(817-819)gaT>gaC	p.D273D	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	273					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.D273D(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TGACCGGGGATCTGCCGTGGC	0.672																																							uc002ecf.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(817-819)GAT>GAC		solute carrier family 5 (sodium/glucose							28.0	29.0	29.0					16																	31499014		2197	4300	6497	SO:0001819	synonymous_variant	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31499014T>C		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.819T>C	16.37:g.31499014T>C						SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	p.D273D	NM_003041	NP_003032	P31639	SC5A2_HUMAN			7	838	+			273			Helical; (Potential).		A2RRD2	Silent	SNP	ENST00000330498.3	37	c.819T>C	CCDS10714.1																																																																																				0.672	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			11	54	0	0	0	0.007413	0	11	54				
C16orf58	64755	broad.mit.edu	37	16	31502241	31502241	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr16:31502241G>A	ENST00000327237.2	-	13	1361	c.1322C>T	c.(1321-1323)gCc>gTc	p.A441V	C16orf58_ENST00000567994.1_Missense_Mutation_p.A396V|C16orf58_ENST00000570164.1_Missense_Mutation_p.A439V|AC026471.6_ENST00000565137.1_RNA			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	441						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A441V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						CTTCCAGCCGGCATCCTGCAG	0.602																																							uc002eci.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1321-1323)GCC>GTC		hypothetical protein LOC64755							69.0	59.0	62.0					16																	31502241		2197	4300	6497	SO:0001583	missense	64755					integral to membrane		g.chr16:31502241G>A	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.1322C>T	16.37:g.31502241G>A	ENSP00000317579:p.Ala441Val					C16orf58_uc002ecg.2_5'Flank|C16orf58_uc002ech.1_Missense_Mutation_p.A179V	p.A441V	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN			13	1334	-			441					Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	ENST00000327237.2	37	c.1322C>T	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294920	0.40594	.	.	ENSG00000140688	ENST00000327237;ENST00000452223	T	0.46451	0.87	5.7	3.41	0.39046	.	0.158645	0.56097	D	0.000038	T	0.26304	0.0642	L	0.27053	0.805	0.80722	D	1	B;B	0.26483	0.067;0.15	B;B	0.20184	0.011;0.028	T	0.06625	-1.0816	10	0.30078	T	0.28	-18.6952	8.9191	0.35601	0.1958:0.0:0.8042:0.0	.	441;179	Q96GQ5;Q96GQ5-2	CP058_HUMAN;.	V	441;395	ENSP00000317579:A441V	ENSP00000317579:A441V	A	-	2	0	C16orf58	31409742	0.796000	0.28864	0.910000	0.35882	0.904000	0.53231	0.931000	0.28871	1.409000	0.46915	0.655000	0.94253	GCC		0.602	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		4	123	0	0	0	0.000248	0	4	123				
TRIM16	10626	broad.mit.edu	37	17	15535856	15535856	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr17:15535856A>G	ENST00000578237.1	-	9	1837	c.982T>C	c.(982-984)Tat>Cat	p.Y328H	TRIM16_ENST00000577886.1_Missense_Mutation_p.Y112H|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.Y328H|TRIM16_ENST00000416464.2_Missense_Mutation_p.Y198H|TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.Y328H			O95361	TRI16_HUMAN	tripartite motif containing 16	328					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)	p.Y328H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TTTTTCTTATAGTTCTCCAGC	0.468																																							uc002gox.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(982-984)TAT>CAT		tripartite motif-containing 16							89.0	87.0	88.0					17																	15535856		2202	4298	6500	SO:0001583	missense	10626				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding	g.chr17:15535856A>G	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.982T>C	17.37:g.15535856A>G	ENSP00000463188:p.Tyr328His					TRIM16_uc002gor.1_Missense_Mutation_p.Y328H|TRIM16_uc002gow.2_Missense_Mutation_p.Y112H|TRIM16_uc002goy.2_Missense_Mutation_p.Y198H	p.Y328H	NM_006470	NP_006461	O95361	TRI16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	7	1539	-			328			Potential.		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.982T>C	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	10.85	1.468322	0.26335	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.66995	0.0;-0.24	4.8	4.8	0.61643	.	0.302877	0.32120	N	0.006560	T	0.79713	0.4493	M	0.70275	2.135	0.35833	D	0.825466	D;D;D	0.89917	0.995;0.959;1.0	P;P;D	0.83275	0.903;0.792;0.996	D	0.85687	0.1304	10	0.72032	D	0.01	.	12.6109	0.56549	1.0:0.0:0.0:0.0	.	198;328;342	B3KP96;O95361;Q59EB2	.;TRI16_HUMAN;.	H	328;198	ENSP00000338989:Y328H;ENSP00000399918:Y198H	ENSP00000338989:Y328H	Y	-	1	0	TRIM16	15476581	1.000000	0.71417	0.998000	0.56505	0.525000	0.34531	2.927000	0.48900	1.921000	0.55644	0.454000	0.30748	TAT		0.468	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		31	188	0	0	0	0.003271	0	31	188				
SHMT1	6470	broad.mit.edu	37	17	18250892	18250892	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr17:18250892C>T	ENST00000316694.3	-	5	571	c.437G>A	c.(436-438)gGg>gAg	p.G146E	SHMT1_ENST00000539052.1_Missense_Mutation_p.G8E|SHMT1_ENST00000352886.6_Missense_Mutation_p.G146E|SHMT1_ENST00000354098.3_Missense_Mutation_p.G146E	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	146					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.G146E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CAGGTGGCCCCCATCCGGAAG	0.537																																							uc002gta.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)GGG>GAG		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						109.0	109.0	109.0					17																	18250892		2203	4300	6503	SO:0001583	missense	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18250892C>T		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.437G>A	17.37:g.18250892C>T	ENSP00000318868:p.Gly146Glu					SHMT1_uc002gtb.2_Missense_Mutation_p.G146E|SHMT1_uc010cqb.2_Missense_Mutation_p.G146E|SHMT1_uc010vxt.1_Missense_Mutation_p.G8E|SHMT1_uc002gtd.1_Missense_Mutation_p.G146E|SHMT1_uc010vxu.1_Missense_Mutation_p.G146E	p.G146E	NM_004169	NP_004160	P34896	GLYC_HUMAN			5	627	-			146					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	c.437G>A	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376706	0.82682	.	.	ENSG00000176974	ENST00000316694;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.95	4.95	0.65309	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.90352	0.6981	H	0.99600	4.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94783	0.7955	10	0.87932	D	0	-24.546	18.577	0.91158	0.0:1.0:0.0:0.0	.	146;146;146;146	B4DZB5;A8MYA6;P34896-2;P34896	.;.;.;GLYC_HUMAN	E	146;146;8;146;146	ENSP00000318868:G146E;ENSP00000345881:G146E;ENSP00000440089:G8E;ENSP00000318805:G146E	ENSP00000318868:G146E	G	-	2	0	SHMT1	18191617	1.000000	0.71417	0.900000	0.35374	0.862000	0.49288	7.641000	0.83368	2.443000	0.82685	0.462000	0.41574	GGG		0.537	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		53	174	0	0	0	0.00361	0	53	174				
STAT5A	6776	broad.mit.edu	37	17	40441527	40441527	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr17:40441527A>T	ENST00000345506.4	+	3	740	c.98A>T	c.(97-99)tAc>tTc	p.Y33F	STAT5A_ENST00000546010.2_Missense_Mutation_p.Y33F|STAT5A_ENST00000590949.1_Missense_Mutation_p.Y33F|STAT5A_ENST00000588868.1_Missense_Mutation_p.Y33F|STAT5A_ENST00000452307.2_Missense_Mutation_p.Y33F	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	33					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Y33F(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GTCCGGCACTACTTGGCCCAG	0.652																																							uc002hzj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(97-99)TAC>TTC		signal transducer and activator of transcription							62.0	51.0	55.0					17																	40441527		2203	4300	6503	SO:0001583	missense	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40441527A>T	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.98A>T	17.37:g.40441527A>T	ENSP00000341208:p.Tyr33Phe					STAT5A_uc010cya.1_Missense_Mutation_p.Y33F|STAT5A_uc010cyb.1_Missense_Mutation_p.Y33F|STAT5A_uc010cyc.1_Missense_Mutation_p.Y33F	p.Y33F	NM_003152	NP_003143	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	3	740	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	33					Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	c.98A>T	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042048	0.55003	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307;ENST00000444283	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.43	3.13	0.36017	STAT transcription factor, protein interaction (4);	0.061020	0.64402	D	0.000002	T	0.58192	0.2105	L	0.50919	1.6	0.51767	D	0.999934	P;B;P	0.47604	0.701;0.382;0.898	P;P;P	0.59221	0.534;0.477;0.854	T	0.50406	-0.8832	10	0.30078	T	0.28	-0.0071	8.6493	0.34025	0.7369:0.1347:0.0:0.1284	.	33;35;33	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	F	33;33;35;33;33	ENSP00000341208:Y33F;ENSP00000443107:Y33F;ENSP00000400320:Y33F;ENSP00000407327:Y33F	ENSP00000341208:Y33F	Y	+	2	0	STAT5A	37695053	1.000000	0.71417	0.958000	0.39756	0.146000	0.21551	7.371000	0.79600	0.324000	0.23333	-0.333000	0.08304	TAC		0.652	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		14	85	0	0	0	0.00499	0	14	85				
MRPL10	124995	broad.mit.edu	37	17	45901636	45901636	+	Missense_Mutation	SNP	G	G	A	rs200394081		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr17:45901636G>A	ENST00000351111.2	-	5	726	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	MRPL10_ENST00000290208.7_Missense_Mutation_p.R251C|OSBPL7_ENST00000392507.3_5'Flank|MRPL10_ENST00000414011.1_Missense_Mutation_p.R251C|OSBPL7_ENST00000007414.3_5'Flank	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	241					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R241C(1)		endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TCCTTCTCGCGTTGCTCTCTG	0.587																																							uc002ilz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)CGC>TGC		mitochondrial ribosomal protein L10 precursor							110.0	93.0	99.0					17																	45901636		2203	4300	6503	SO:0001583	missense	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45901636G>A	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.721C>T	17.37:g.45901636G>A	ENSP00000324100:p.Arg241Cys					OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc010wky.1_Missense_Mutation_p.R202C|MRPL10_uc002ily.2_Missense_Mutation_p.R251C	p.R241C	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN			5	747	-			241					A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	c.721C>T	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103445	0.56291	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.44881	0.91;1.91;1.91	4.76	2.74	0.32292	.	1.487770	0.03807	N	0.265316	T	0.35393	0.0930	L	0.36672	1.1	0.28990	N	0.888127	P;D	0.58620	0.947;0.983	B;B	0.41299	0.183;0.353	T	0.28713	-1.0035	10	0.59425	D	0.04	-10.5551	6.4146	0.21710	0.0871:0.0:0.4742:0.4387	.	241;251	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	C	241;251;251	ENSP00000324100:R241C;ENSP00000290208:R251C;ENSP00000395870:R251C	ENSP00000290208:R251C	R	-	1	0	MRPL10	43256635	0.721000	0.28007	0.031000	0.17742	0.378000	0.30076	1.987000	0.40687	0.418000	0.25898	0.491000	0.48974	CGC		0.587	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		9	115	0	0	0	0.004482	0	9	115				
TTYH2	94015	broad.mit.edu	37	17	72248464	72248464	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr17:72248464T>C	ENST00000269346.4	+	11	1282	c.1208T>C	c.(1207-1209)tTc>tCc	p.F403S	TTYH2_ENST00000441391.2_Missense_Mutation_p.F82S|TTYH2_ENST00000529107.1_Missense_Mutation_p.F382S	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	403						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.F403S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GCCCTCGCCTTCTCCACCATG	0.617																																							uc002jkc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1207-1209)TTC>TCC		tweety 2 isoform 1							86.0	70.0	76.0					17																	72248464		2203	4300	6503	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72248464T>C		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1208T>C	17.37:g.72248464T>C	ENSP00000269346:p.Phe403Ser					TTYH2_uc010wqw.1_Missense_Mutation_p.F382S|TTYH2_uc002jkd.2_Missense_Mutation_p.F82S	p.F403S	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			11	1239	+			403			Helical; Name=5; (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.1208T>C	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493960	0.84962	.	.	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.15372	2.43;2.43;2.43	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.989;0.99	T	0.55958	-0.8058	10	0.87932	D	0	-47.0253	15.1241	0.72469	0.0:0.0:0.0:1.0	.	382;403	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	S	403;382;82	ENSP00000269346:F403S;ENSP00000433089:F382S;ENSP00000394576:F82S	ENSP00000269346:F403S	F	+	2	0	TTYH2	69760059	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.441000	0.80485	2.198000	0.70561	0.533000	0.62120	TTC		0.617	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			4	97	0	0	0	0.000248	0	4	97				
ST6GALNAC1	55808	broad.mit.edu	37	17	74625395	74625395	+	Missense_Mutation	SNP	G	G	T	rs373212469		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr17:74625395G>T	ENST00000156626.7	-	2	729	c.530C>A	c.(529-531)tCc>tAc	p.S177Y	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	177					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.S177Y(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CACCGTCCTGGAGGCCGTCAG	0.592																																							uc002jsh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(529-531)TCC>TAC		sialyltransferase 7A							183.0	158.0	166.0					17																	74625395		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74625395G>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.530C>A	17.37:g.74625395G>T	ENSP00000156626:p.Ser177Tyr					ST6GALNAC1_uc002jsi.2_Missense_Mutation_p.S45Y|ST6GALNAC1_uc002jsj.2_RNA	p.S177Y	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN			2	704	-			177			Lumenal (Potential).		Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.530C>A	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528413	0.27299	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.24908	1.85;1.83	4.43	-0.1	0.13621	.	1.620940	0.03432	N	0.207903	T	0.13243	0.0321	N	0.08118	0	0.20703	N	0.999861	B	0.33448	0.412	B	0.31614	0.133	T	0.18085	-1.0348	10	0.54805	T	0.06	0.0047	4.1883	0.10409	0.1797:0.0:0.5017:0.3186	.	177	Q9NSC7	SIA7A_HUMAN	Y	177	ENSP00000156626:S177Y;ENSP00000351991:S177Y	ENSP00000156626:S177Y	S	-	2	0	ST6GALNAC1	72136990	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	1.355000	0.34068	-0.064000	0.13043	0.491000	0.48974	TCC		0.592	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		13	382	1	0	4.93089e-13	0.00245	6.71745e-13	13	382				
CDKN2D	1032	broad.mit.edu	37	19	10677773	10677773	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr19:10677773G>A	ENST00000393599.2	-	2	786	c.462C>T	c.(460-462)ctC>ctT	p.L154L	KRI1_ENST00000537964.1_5'Flank|CDKN2D_ENST00000335766.2_Silent_p.L154L|KRI1_ENST00000361821.5_5'Flank|KRI1_ENST00000312962.6_5'Flank	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	154					autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.L154L(1)		endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGATGTCCACGAGGTCCTGAG	0.607																																							uc002mpa.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(460-462)CTC>CTT		cyclin-dependent kinase inhibitor 2D							63.0	66.0	65.0					19																	10677773		2203	4300	6503	SO:0001819	synonymous_variant	1032	Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System			anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:10677773G>A		CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"""Ankyrin repeat domain containing"""	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273		ENST00000393599.2:c.462C>T	19.37:g.10677773G>A						KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Silent_p.L154L	p.L154L	NM_001800	NP_001791	P55273	CDN2D_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		2	764	-			154			ANK 4.		Q13102|Q6FGE9	Silent	SNP	ENST00000393599.2	37	c.462C>T	CCDS12244.1																																																																																				0.607	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452030.1	NM_079421		17	124	0	0	0	0.006122	0	17	124				
EMR2	30817	broad.mit.edu	37	19	14866619	14866619	+	Silent	SNP	C	C	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr19:14866619C>A	ENST00000315576.3	-	13	1714	c.1263G>T	c.(1261-1263)ctG>ctT	p.L421L	EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353876.1_Silent_p.L328L|EMR2_ENST00000594294.1_Silent_p.L372L|EMR2_ENST00000392967.2_Silent_p.L410L|EMR2_ENST00000346057.1_Silent_p.L372L|EMR2_ENST00000595839.1_Silent_p.L279L|EMR2_ENST00000392965.3_Silent_p.L421L|EMR2_ENST00000596991.2_Silent_p.L410L|EMR2_ENST00000353005.1_Silent_p.L279L|EMR2_ENST00000594076.1_Silent_p.L328L|EMR2_ENST00000601345.1_Silent_p.L410L	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	421					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.L421L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCTCAGGTTCCAGGACCAGAG	0.592																																							uc002mzp.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(1261-1263)CTG>CTT		egf-like module containing, mucin-like, hormone							84.0	81.0	82.0					19																	14866619		2203	4300	6503	SO:0001819	synonymous_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14866619C>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1263G>T	19.37:g.14866619C>A						EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Silent_p.L421L|EMR2_uc002mzo.1_Silent_p.L410L|EMR2_uc002mzq.1_Silent_p.L361L|EMR2_uc002mzr.1_Silent_p.L372L|EMR2_uc002mzs.1_Silent_p.L279L|EMR2_uc002mzt.1_Silent_p.L317L|EMR2_uc002mzu.1_Silent_p.L328L|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron	p.L421L	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			13	1719	-			421			Extracellular (Potential).		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	c.1263G>T	CCDS32935.1																																																																																				0.592	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			11	80	1	0	3.07112e-06	0.000978	3.90115e-06	11	80				
GMIP	51291	broad.mit.edu	37	19	19751158	19751158	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr19:19751158C>T	ENST00000203556.4	-	6	513	c.376G>A	c.(376-378)Gct>Act	p.A126T	GMIP_ENST00000587238.1_Missense_Mutation_p.A126T|GMIP_ENST00000445806.2_Missense_Mutation_p.A126T	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	126					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)	p.A126T(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTGCTCTTAGCAAACTCCAGC	0.607																																							uc002nnd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(376-378)GCT>ACT		GEM interacting protein							68.0	75.0	73.0					19																	19751158		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19751158C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.376G>A	19.37:g.19751158C>T	ENSP00000203556:p.Ala126Thr					GMIP_uc010xrb.1_Missense_Mutation_p.A126T|GMIP_uc010xrc.1_Missense_Mutation_p.A126T	p.A126T	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			6	493	-			126					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.376G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895823	0.33442	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.60672	0.17;0.17	4.98	1.27	0.21489	.	0.379569	0.19321	N	0.117146	T	0.46092	0.1375	L	0.49640	1.575	0.50039	D	0.999847	B;B;B	0.26975	0.165;0.165;0.165	B;B;B	0.22601	0.04;0.04;0.04	T	0.42599	-0.9442	10	0.59425	D	0.04	-5.538	7.2162	0.25961	0.148:0.6755:0.0:0.1765	.	126;126;126	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	T	126	ENSP00000203556:A126T;ENSP00000397075:A126T	ENSP00000203556:A126T	A	-	1	0	GMIP	19612158	1.000000	0.71417	0.946000	0.38457	0.853000	0.48598	1.515000	0.35845	0.513000	0.28278	0.561000	0.74099	GCT		0.607	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		31	174	0	0	0	0.002836	0	31	174				
PLEKHF1	79156	broad.mit.edu	37	19	30164791	30164791	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr19:30164791C>T	ENST00000436066.3	+	2	511	c.45C>T	c.(43-45)atC>atT	p.I15I	PLEKHF1_ENST00000592810.1_Silent_p.I15I	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	15					apoptotic process (GO:0006915)|endosome organization (GO:0007032)|positive regulation of autophagy (GO:0010508)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein localization to plasma membrane (GO:0072659)|vesicle organization (GO:0016050)	endosome membrane (GO:0010008)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.I15I(1)		breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GCCAGCGCATCGCGGCAGTGG	0.662																																							uc002nsh.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(43-45)ATC>ATT		apoptosis-inducing protein D							49.0	52.0	51.0					19																	30164791		2203	4300	6503	SO:0001819	synonymous_variant	79156				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr19:30164791C>T	AF434818	CCDS12417.1	19q11	2013-01-10				ENSG00000166289		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20764	protein-coding gene	gene with protein product		615200					Standard	NM_024310		Approved	APPD, MGC4090, PHAFIN1, ZFYVE15	uc002nsh.4	Q96S99		ENST00000436066.3:c.45C>T	19.37:g.30164791C>T						PLEKHF1_uc002nsi.3_Silent_p.I100I	p.I15I	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		2	147	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		15					Q96K11|Q9BUB9	Silent	SNP	ENST00000436066.3	37	c.45C>T	CCDS12417.1																																																																																				0.662	PLEKHF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459323.1	NM_024310		16	78	0	0	0	0.001523	0	16	78				
ATP1A3	478	broad.mit.edu	37	19	42472957	42472957	+	Silent	SNP	C	C	T	rs150417636		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr19:42472957C>T	ENST00000302102.5	-	20	2949	c.2799G>A	c.(2797-2799)tcG>tcA	p.S933S	ATP1A3_ENST00000543770.1_Silent_p.S944S|ATP1A3_ENST00000602133.1_Silent_p.S903S|ATP1A3_ENST00000545399.1_Silent_p.S946S	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	933					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.S933S(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCTGGAAGACCGAGTTCCTCC	0.577																																							uc002osg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2797-2799)TCG>TCA		Na+/K+ -ATPase alpha 3 subunit		C		1,4405	2.1+/-5.4	0,1,2202	88.0	73.0	78.0		2799	-6.8	0.4	19	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	ATP1A3	NM_152296.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		933/1014	42472957	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42472957C>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2799G>A	19.37:g.42472957C>T						ATP1A3_uc010xwf.1_Silent_p.S944S|ATP1A3_uc010xwg.1_Silent_p.S903S|ATP1A3_uc010xwh.1_Silent_p.S946S|ATP1A3_uc002osh.2_Silent_p.S933S	p.S933S	NM_152296	NP_689509	P13637	AT1A3_HUMAN			20	2953	-			933			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	c.2799G>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	6.878	0.531325	0.13127	2.27E-4	0.0	ENSG00000105409	ENST00000535899	.	.	.	3.42	-6.84	0.01687	.	.	.	.	.	T	0.51449	0.1675	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63607	-0.6599	5	0.87932	D	0	.	2.0435	0.03555	0.2847:0.3493:0.2607:0.1053	.	.	.	.	Q	677	.	ENSP00000439822:R677Q	R	-	2	0	ATP1A3	47164797	0.000000	0.05858	0.394000	0.26270	0.955000	0.61496	-7.098000	0.00044	-4.246000	0.00062	-1.450000	0.01041	CGG		0.577	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		16	89	0	0	0	0.006122	0	16	89				
GPR4	2828	broad.mit.edu	37	19	46094725	46094725	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr19:46094725C>A	ENST00000323040.4	-	2	1344	c.400G>T	c.(400-402)Gcc>Tcc	p.A134S	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	134					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A134S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGGCCACGGCGGTCTTGACG	0.662																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(400-402)GCC>TCC		G protein-coupled receptor 4							31.0	37.0	35.0					19																	46094725		2195	4286	6481	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094725C>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.400G>T	19.37:g.46094725C>A	ENSP00000319744:p.Ala134Ser					OPA3_uc010xxk.1_Intron	p.A134S	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1345	-			134			Helical; Name=4; (Potential).		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.400G>T	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905793	0.92107	.	.	ENSG00000177464	ENST00000323040	T	0.41758	0.99	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.62048	0.2396	M	0.65677	2.01	0.53688	D	0.999974	D	0.76494	0.999	D	0.69654	0.965	T	0.61569	-0.7036	10	0.45353	T	0.12	.	16.5114	0.84286	0.0:1.0:0.0:0.0	.	134	P46093	GPR4_HUMAN	S	134	ENSP00000319744:A134S	ENSP00000319744:A134S	A	-	1	0	GPR4	50786565	1.000000	0.71417	0.956000	0.39512	0.961000	0.63080	5.860000	0.69546	2.501000	0.84356	0.455000	0.32223	GCC		0.662	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		12	100	1	0	1.3612e-06	0.003163	1.77713e-06	12	100				
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	RNA	SNP	C	C	G	rs17857355	byFrequency	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr2:114355998C>G	ENST00000538033.2	+	0	2178							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCAAGGTGGGCACTTGATGTC	0.612																																							uc002tkh.2		NA																	0					0						c.(616-618)CAC>GAC		WAS protein family homolog 1																																						375260							g.chr2:114355998C>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355998C>G						WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA	p.H206D	NM_182905	NP_878908					5	674	+									Missense_Mutation	SNP	ENST00000538033.2	37	c.616C>G																																																																																					0.612	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		3	13	0	0	0	0.000602	0	3	13				
TTN	7273	broad.mit.edu	37	2	179413470	179413470	+	Silent	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr2:179413470T>C	ENST00000591111.1	-	289	88184	c.87960A>G	c.(87958-87960)aaA>aaG	p.K29320K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.K21896K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.K22088K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.K30961K|TTN_ENST00000342992.6_Silent_p.K28393K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Silent_p.K22021K			Q8WZ42	TITIN_HUMAN	titin	29320	Ig-like 134.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K28393K(1)|p.K22021K(1)|p.K22088K(1)|p.K28391K(1)|p.K21896K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGAGTCTGGTTTGCTCCACA	0.463																																							uc010zfg.1		NA																	5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(85177-85179)AAA>AAG		titin isoform N2-A							125.0	120.0	121.0					2																	179413470		1963	4145	6108	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413470T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87960A>G	2.37:g.179413470T>C						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K22088K|TTN_uc010zfi.1_Silent_p.K22021K|TTN_uc010zfj.1_Silent_p.K21896K	p.K28393K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85403	-			29320					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.85179A>G																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	110	0	0	0	0.000248	0	3	110				
RNF25	64320	broad.mit.edu	37	2	219529102	219529102	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr2:219529102G>C	ENST00000295704.2	-	10	1398	c.958C>G	c.(958-960)Cca>Gca	p.P320A		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	320					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P320A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGTCCCTGGAATCTTCTCA	0.582																																							uc002vit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(958-960)CCA>GCA		ring finger protein 25							80.0	83.0	82.0					2																	219529102		2203	4300	6503	SO:0001583	missense	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529102G>C		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.958C>G	2.37:g.219529102G>C	ENSP00000295704:p.Pro320Ala					RNF25_uc010fvw.2_Missense_Mutation_p.P208A	p.P320A	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1046	-		Renal(207;0.0474)	320					A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.958C>G	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	G	4.387	0.071431	0.08436	.	.	ENSG00000163481	ENST00000295704	T	0.43294	0.95	5.55	-0.189	0.13260	.	0.747332	0.12899	N	0.429935	T	0.27349	0.0671	L	0.36672	1.1	0.09310	N	1	B	0.24483	0.104	B	0.18871	0.023	T	0.16453	-1.0402	10	0.30078	T	0.28	-23.4741	6.6404	0.22906	0.4265:0.1223:0.4512:0.0	.	320	Q96BH1	RNF25_HUMAN	A	320	ENSP00000295704:P320A	ENSP00000295704:P320A	P	-	1	0	RNF25	219237346	0.003000	0.15002	0.468000	0.27192	0.198000	0.23893	-0.058000	0.11750	0.071000	0.16664	-0.136000	0.14681	CCA		0.582	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		3	211	0	0	0	0.004672	0	3	211				
ZNF133	7692	broad.mit.edu	37	20	18295923	18295923	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr20:18295923C>T	ENST00000316358.4	+	4	525	c.428C>T	c.(427-429)gCa>gTa	p.A143V	ZNF133_ENST00000535822.1_Missense_Mutation_p.A48V|ZNF133_ENST00000538547.1_Missense_Mutation_p.A48V|ZNF133_ENST00000377671.3_Missense_Mutation_p.A142V|ZNF133_ENST00000402618.2_Missense_Mutation_p.A80V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.A146V|ZNF133_ENST00000401790.1_Missense_Mutation_p.A143V|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	143					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A142V(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AGTGATCAAGCAGAAGGTCCT	0.587																																							uc010gcq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(427-429)GCA>GTA		zinc finger protein 133							110.0	118.0	115.0					20																	18295923		2203	4300	6503	SO:0001583	missense	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18295923C>T	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.428C>T	20.37:g.18295923C>T	ENSP00000346090:p.Ala143Val					ZNF133_uc010zrv.1_Missense_Mutation_p.A146V|ZNF133_uc010zrw.1_Missense_Mutation_p.A80V|ZNF133_uc010gcr.2_Missense_Mutation_p.A143V|ZNF133_uc010zrx.1_Missense_Mutation_p.A48V|ZNF133_uc002wql.3_Missense_Mutation_p.A142V|ZNF133_uc010gcs.2_Missense_Mutation_p.A142V|ZNF133_uc010zry.1_Missense_Mutation_p.A48V|ZNF133_uc002wqm.2_Missense_Mutation_p.A143V	p.A143V	NM_003434	NP_003425	P52736	ZN133_HUMAN			5	733	+			143					A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37	c.428C>T		.	.	.	.	.	.	.	.	.	.	C	3.344	-0.133970	0.06711	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358;ENST00000425686	T;T;T;T;T;T;T;T	0.09255	3.23;3.27;3.0;3.27;3.1;3.1;3.27;5.04	4.29	3.35	0.38373	.	0.485095	0.17523	N	0.171171	T	0.08891	0.0220	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.11235	0.001;0.001;0.002;0.004	B;B;B;B	0.09377	0.001;0.003;0.003;0.004	T	0.26643	-1.0097	10	0.23302	T	0.38	-8.1412	10.6022	0.45373	0.0:0.9041:0.0:0.0959	.	80;146;143;142	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	V	142;146;80;143;48;48;143;143	ENSP00000366899:A142V;ENSP00000400897:A146V;ENSP00000385279:A80V;ENSP00000383945:A143V;ENSP00000442978:A48V;ENSP00000439427:A48V;ENSP00000346090:A143V;ENSP00000406638:A143V	ENSP00000346090:A143V	A	+	2	0	ZNF133	18243923	0.000000	0.05858	0.018000	0.16275	0.008000	0.06430	0.425000	0.21346	1.407000	0.46875	0.655000	0.94253	GCA		0.587	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		34	259	0	0	0	0.00623	0	34	259				
APOL5	80831	broad.mit.edu	37	22	36122633	36122633	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr22:36122633G>C	ENST00000249044.2	+	3	518	c.518G>C	c.(517-519)gGg>gCg	p.G173A		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	173					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)	p.G173A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TCAGCAACTGGGACAGGGTTG	0.547																																							uc003aof.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(517-519)GGG>GCG		apolipoprotein L5							69.0	75.0	73.0					22																	36122633		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122633G>C	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.518G>C	22.37:g.36122633G>C	ENSP00000249044:p.Gly173Ala						p.G173A	NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN			3	518	+			173					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.518G>C	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781203	0.31502	.	.	ENSG00000128313	ENST00000249044	T	0.38887	1.11	3.6	2.57	0.30868	.	0.000000	0.64402	U	0.000007	T	0.41558	0.1164	L	0.58302	1.8	0.09310	N	1	B	0.30709	0.291	B	0.33568	0.166	T	0.36720	-0.9736	10	0.72032	D	0.01	.	12.8574	0.57892	0.0:0.1685:0.8315:0.0	.	173	Q9BWW9	APOL5_HUMAN	A	173	ENSP00000249044:G173A	ENSP00000249044:G173A	G	+	2	0	APOL5	34452579	0.774000	0.28592	0.002000	0.10522	0.005000	0.04900	3.165000	0.50778	0.087000	0.17167	-0.795000	0.03280	GGG		0.547	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		26	198	0	0	0	0.005443	0	26	198				
DNAH1	25981	broad.mit.edu	37	3	52429049	52429049	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr3:52429049C>G	ENST00000420323.2	+	68	11203	c.10942C>G	c.(10942-10944)Ctg>Gtg	p.L3648V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3713					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L3712V(1)|p.L3648V(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCACCAACCTGGAGCCACG	0.617																																							uc011bef.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(3)	3						c.(10942-10944)CTG>GTG		dynein, axonemal, heavy chain 1							38.0	41.0	40.0					3																	52429049		2053	4193	6246	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52429049C>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10942C>G	3.37:g.52429049C>G	ENSP00000401514:p.Leu3648Val					DNAH1_uc003ddv.2_Missense_Mutation_p.L506V	p.L3648V	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	68	11203	+			3713			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.10942C>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475449	0.63737	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.14640	2.49	4.38	2.53	0.30540	.	0.000000	0.51477	D	0.000100	T	0.40909	0.1136	M	0.91038	3.17	0.43947	D	0.996618	D;D	0.71674	0.99;0.998	P;D	0.77557	0.905;0.99	T	0.45086	-0.9285	10	0.87932	D	0	.	9.1656	0.37050	0.0:0.7594:0.0:0.2406	.	3648;3713	C9JXH6;Q9P2D7-2	.;.	V	3648;401	ENSP00000401514:L3648V	ENSP00000273600:L401V	L	+	1	2	DNAH1	52404089	0.987000	0.35691	1.000000	0.80357	0.996000	0.88848	0.835000	0.27531	1.055000	0.40461	0.655000	0.94253	CTG		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		7	23	0	0	0	0.00308	0	7	23				
STAG1	10274	broad.mit.edu	37	3	136342081	136342081	+	Silent	SNP	A	A	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr3:136342081A>G	ENST00000383202.2	-	3	295	c.39T>C	c.(37-39)acT>acC	p.T13T	STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Silent_p.T13T|STAG1_ENST00000480733.1_Silent_p.T13T	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	13					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.T13T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TAGTTTCATTAGTTGAATCCC	0.403																																							uc003era.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(37-39)ACT>ACC		stromal antigen 1							84.0	92.0	89.0					3																	136342081		2203	4300	6503	SO:0001819	synonymous_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136342081A>G	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.39T>C	3.37:g.136342081A>G						STAG1_uc003erb.1_Silent_p.T13T|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.2_Silent_p.T13T	p.T13T	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			3	331	-			13					O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	c.39T>C	CCDS3090.1																																																																																				0.403	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		3	109	0	0	0	0.004672	0	3	109				
NLGN1	22871	broad.mit.edu	37	3	173997033	173997033	+	Silent	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr3:173997033T>C	ENST00000457714.1	+	6	1671	c.1242T>C	c.(1240-1242)gcT>gcC	p.A414A	NLGN1_ENST00000401917.3_Silent_p.A454A|NLGN1_ENST00000361589.4_Silent_p.A414A|NLGN1_ENST00000545397.1_Silent_p.A414A|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	431					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.A414A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGACTTTGCTGTTTCAAATT	0.338																																							uc003fio.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1240-1242)GCT>GCC		neuroligin 1							109.0	115.0	113.0					3																	173997033		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997033T>C	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1242T>C	3.37:g.173997033T>C						NLGN1_uc010hww.1_Silent_p.A454A|NLGN1_uc003fip.1_Silent_p.A414A	p.A414A	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1665	+	Ovarian(172;0.0025)		431			Extracellular (Potential).		Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.1242T>C	CCDS3222.1																																																																																				0.338	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		6	51	0	0	0	0.001984	0	6	51				
ABCF3	55324	broad.mit.edu	37	3	183909004	183909004	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr3:183909004C>T	ENST00000429586.2	+	16	1715	c.1530C>T	c.(1528-1530)cgC>cgT	p.R510R	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.R504R	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	510	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> H (in dbSNP:rs9811715).		defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R510R(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTTCAGTCGCCTCTCTGTGT	0.537																																							uc003fmz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)	4						c.(1528-1530)CGC>CGT		ATP-binding cassette, sub-family F (GCN20),							200.0	173.0	182.0					3																	183909004		2203	4300	6503	SO:0001819	synonymous_variant	55324						ATP binding|ATPase activity	g.chr3:183909004C>T	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1530C>T	3.37:g.183909004C>T						ABCF3_uc003fna.2_Silent_p.R504R|ABCF3_uc003fnb.2_Silent_p.R191R	p.R510R	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	1663	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		510			ABC transporter 2.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Silent	SNP	ENST00000429586.2	37	c.1530C>T	CCDS3254.1																																																																																				0.537	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		43	253	0	0	0	0.00361	0	43	253				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																							uc003fuw.2		NA																	0					0						c.(91-93)CGC>TGC		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T						SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA	p.R31C							9	1285	+									Missense_Mutation	SNP	ENST00000445430.1	37	c.91C>T																																																																																					0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	70	0	0	0	0.001168	0	4	70				
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	lincRNA	SNP	G	G	A	rs7635172		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395									long intergenic non-protein coding RNA 969																		CAAACTCGCTGTTGGACCTGG	0.597																																							uc003fuw.2		NA																	0					0						c.(94-96)TGT>TAT		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195400799G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400799G>A						SDHAP2_uc011btb.1_Silent_p.L179L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA	p.C32Y							9	1289	+									Missense_Mutation	SNP	ENST00000445430.1	37	c.95G>A																																																																																					0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	72	0	0	0	0.001168	0	4	72				
KIAA0922	23240	broad.mit.edu	37	4	154555427	154555427	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr4:154555427C>T	ENST00000409663.3	+	33	4461	c.4409C>T	c.(4408-4410)cCa>cTa	p.P1470L	KIAA0922_ENST00000409959.3_Missense_Mutation_p.P1471L|KIAA0922_ENST00000440693.1_Missense_Mutation_p.P1387L	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1470						integral component of membrane (GO:0016021)		p.P1471L(1)|p.P1323L(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AATGCCTTTCCAGAAGGTAAG	0.423																																							uc003inm.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(4408-4410)CCA>CTA		hypothetical protein LOC23240 isoform 2							129.0	128.0	128.0					4																	154555427		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154555427C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4409C>T	4.37:g.154555427C>T	ENSP00000386574:p.Pro1470Leu					KIAA0922_uc010ipp.2_Missense_Mutation_p.P1471L|KIAA0922_uc010ipq.2_Missense_Mutation_p.P1239L	p.P1470L	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			33	4461	+	all_hematologic(180;0.093)	Renal(120;0.118)	1470			Cytoplasmic (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.4409C>T	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557311	0.45590	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.26518	2.0;1.73;2.0;1.74	5.36	4.52	0.55395	.	0.289292	0.33572	N	0.004767	T	0.44993	0.1320	L	0.55481	1.735	0.80722	D	1	D;P;P	0.76494	0.999;0.702;0.717	D;B;B	0.67548	0.952;0.389;0.218	T	0.45293	-0.9271	10	0.87932	D	0	-7.478	14.7344	0.69406	0.0:0.9295:0.0:0.0705	.	1387;1471;1470	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	L	1470;1387;1471;1248	ENSP00000386574:P1470L;ENSP00000409663:P1387L;ENSP00000386787:P1471L;ENSP00000240487:P1248L	ENSP00000240487:P1248L	P	+	2	0	KIAA0922	154774877	1.000000	0.71417	0.725000	0.30721	0.741000	0.42261	3.333000	0.52090	1.382000	0.46385	0.655000	0.94253	CCA		0.423	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		17	139	0	0	0	0.007413	0	17	139				
GPR98	84059	broad.mit.edu	37	5	90136558	90136558	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr5:90136558C>G	ENST00000405460.2	+	78	16871	c.16775C>G	c.(16774-16776)cCt>cGt	p.P5592R	GPR98_ENST00000425867.2_Missense_Mutation_p.P1253R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5592					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P5592R(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATTCATTTCCTAAACGCTTC	0.433																																							uc003kju.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(16774-16776)CCT>CGT		G protein-coupled receptor 98 precursor							177.0	172.0	174.0					5																	90136558		1873	4115	5988	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90136558C>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16775C>G	5.37:g.90136558C>G	ENSP00000384582:p.Pro5592Arg					GPR98_uc003kjt.2_Missense_Mutation_p.P3298R|GPR98_uc003kjw.2_Missense_Mutation_p.P1253R	p.P5592R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	78	16871	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5592			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.16775C>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650994	0.87958	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27104	1.69;1.69	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.32851	-0.9891	9	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1253;5592;1253	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	R	5592;5592;1253	ENSP00000384582:P5592R;ENSP00000392618:P1253R	.	P	+	2	0	GPR98	90172314	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.107000	0.77047	2.937000	0.99478	0.650000	0.86243	CCT		0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		15	146	0	0	0	0.006122	0	15	146				
PITX1	5307	broad.mit.edu	37	5	134364489	134364489	+	Missense_Mutation	SNP	C	C	T	rs140746945		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr5:134364489C>T	ENST00000265340.7	-	3	1341	c.925G>A	c.(925-927)Gcg>Acg	p.A309T	PITX1_ENST00000506438.1_Missense_Mutation_p.A309T	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	309					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)	p.A309T(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TACTGGCACGCGTTGAGGCCC	0.751																																							uc010jea.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(925-927)GCG>ACG		paired-like homeodomain transcription factor 1		C	THR/ALA	1,4395		0,1,2197	13.0	14.0	14.0		925	4.3	1.0	5	dbSNP_134	14	0,8586		0,0,4293	no	missense	PITX1	NM_002653.4	58	0,1,6490	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	309/315	134364489	1,12981	2198	4293	6491	SO:0001583	missense	5307					nucleolus	sequence-specific DNA binding	g.chr5:134364489C>T	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.925G>A	5.37:g.134364489C>T	ENSP00000265340:p.Ala309Thr					PITX1_uc011cxy.1_Missense_Mutation_p.A309T	p.A309T	NM_002653	NP_002644	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	3	1318	-			309					A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	ENST00000265340.7	37	c.925G>A	CCDS4182.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609789	0.96637	2.27E-4	0.0	ENSG00000069011	ENST00000265340;ENST00000506438	D;D	0.92647	-3.08;-3.08	4.32	4.32	0.51571	.	0.112351	0.64402	D	0.000015	D	0.95105	0.8414	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.95780	0.8816	10	0.87932	D	0	.	15.7942	0.78398	0.0:1.0:0.0:0.0	.	309	P78337	PITX1_HUMAN	T	309	ENSP00000265340:A309T;ENSP00000427542:A309T	ENSP00000265340:A309T	A	-	1	0	PITX1	134392388	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.173000	0.77612	1.954000	0.56735	0.462000	0.41574	GCG		0.751	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			6	31	0	0	0	0.001168	0	6	31				
PCDHA2	56146	broad.mit.edu	37	5	140174709	140174709	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr5:140174709C>T	ENST00000526136.1	+	1	160	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.L54L|PCDHA2_ENST00000520672.2_Silent_p.L54L|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	54	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L54L(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCTGGGGCTGGAGCTGGA	0.647																																							uc003lhd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(160-162)CTG>TTG		protocadherin alpha 2 isoform 1 precursor							47.0	57.0	53.0					5																	140174709		2201	4292	6493	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140174709C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.160C>T	5.37:g.140174709C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.L54L|PCDHA2_uc011czy.1_Silent_p.L54L	p.L54L	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	266	+			54			Extracellular (Potential).|Cadherin 1.		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.160C>T	CCDS54914.1																																																																																				0.647	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		13	178	0	0	0	0.001368	0	13	178				
PCDHGA1	56114	broad.mit.edu	37	5	140712646	140712646	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr5:140712646G>C	ENST00000517417.1	+	1	2395	c.2395G>C	c.(2395-2397)Gaa>Caa	p.E799Q	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E799Q	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	799					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E799Q(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTTTACTTGAAGACAAAAA	0.418																																							uc003lji.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(2395-2397)GAA>CAA		protocadherin gamma subfamily A, 1 isoform 1							65.0	71.0	69.0					5																	140712646		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712646G>C	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2395G>C	5.37:g.140712646G>C	ENSP00000431083:p.Glu799Gln					PCDHGA1_uc011dan.1_Missense_Mutation_p.E799Q	p.E799Q	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2395	+			799			Cytoplasmic (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2395G>C	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	.	10.59	1.392464	0.25118	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	D;T	0.94687	-3.49;0.72	4.15	2.19	0.27852	.	0.381236	0.19030	N	0.124588	D	0.90484	0.7019	L	0.52126	1.63	0.20638	N	0.999879	B;B	0.19073	0.033;0.019	B;B	0.25291	0.059;0.022	T	0.82550	-0.0401	10	0.45353	T	0.12	.	5.96	0.19295	0.1891:0.1611:0.6497:0.0	.	799;799	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	Q	799	ENSP00000431083:E799Q;ENSP00000367345:E799Q	ENSP00000367345:E799Q	E	+	1	0	PCDHGA1	140692830	1.000000	0.71417	0.766000	0.31476	0.939000	0.58152	2.325000	0.43840	1.084000	0.41184	0.591000	0.81541	GAA		0.418	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		7	145	0	0	0	0.001984	0	7	145				
G3BP1	10146	broad.mit.edu	37	5	151166212	151166212	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr5:151166212G>T	ENST00000394123.3	+	2	176	c.31G>T	c.(31-33)Gtc>Ttc	p.V11F	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Missense_Mutation_p.V11F			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	11	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.V11F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TCCCCTGCTGGTCGGGCGGGA	0.488																																							uc003lun.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(31-33)GTC>TTC		Ras-GTPase-activating protein SH3-domain-binding							141.0	139.0	140.0					5																	151166212		2203	4300	6503	SO:0001583	missense	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151166212G>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.31G>T	5.37:g.151166212G>T	ENSP00000377681:p.Val11Phe					G3BP1_uc010jhy.1_Missense_Mutation_p.V11F|G3BP1_uc003lum.2_Missense_Mutation_p.V11F|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR|uc003luo.1_5'Flank|uc003lup.1_5'Flank	p.V11F	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		2	202	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	11			NTF2.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.31G>T	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679786	0.88542	.	.	ENSG00000145907	ENST00000523519;ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878;ENST00000274596;ENST00000520006	D;D	0.84944	-1.92;-1.92	5.05	4.15	0.48705	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.94118	0.8114	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	D	0.95549	0.8619	10	0.87932	D	0	-10.5236	15.5053	0.75735	0.0:0.1391:0.8609:0.0	.	11;11	E5RJU8;Q13283	.;G3BP1_HUMAN	F	11	ENSP00000377681:V11F;ENSP00000348578:V11F	ENSP00000274596:V11F	V	+	1	0	G3BP1	151146405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.428000	0.97476	1.205000	0.43262	0.491000	0.48974	GTC		0.488	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		24	130	1	0	3.08376e-08	0.00333	4.14105e-08	24	130				
HIST1H1C	3006	broad.mit.edu	37	6	26056605	26056605	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr6:26056605C>G	ENST00000343677.2	-	1	94	c.52G>C	c.(52-54)Gcc>Ccc	p.A18P		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	18			A -> V (in dbSNP:rs2230653).		nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A18P(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTTACAGGGGCCTTCTCCGCA	0.617																																							uc003nfw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(52-54)GCC>CCC		histone cluster 1, H1c																																				SO:0001583	missense	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056605C>G	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.52G>C	6.37:g.26056605C>G	ENSP00000339566:p.Ala18Pro						p.A18P	NM_005319	NP_005310	P16403	H12_HUMAN			1	95	-			18					A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	c.52G>C	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.139850	0.01728	.	.	ENSG00000187837	ENST00000343677	T	0.10668	2.85	5.73	-7.46	0.01369	.	0.686095	0.13281	N	0.399718	T	0.01287	0.0042	N	0.08118	0	0.25614	N	0.986461	B	0.31009	0.303	B	0.33121	0.158	T	0.19484	-1.0304	10	0.08381	T	0.77	-2.6895	16.5996	0.84810	0.0:0.3182:0.0:0.6818	.	18	P16403	H12_HUMAN	P	18	ENSP00000339566:A18P	ENSP00000339566:A18P	A	-	1	0	HIST1H1C	26164584	0.026000	0.19158	0.015000	0.15790	0.000000	0.00434	-1.634000	0.02020	-1.688000	0.01435	-0.880000	0.02959	GCC		0.617	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		7	119	0	0	0	0.00308	0	7	119				
ASL	435	broad.mit.edu	37	7	65546942	65546942	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr7:65546942C>T	ENST00000304874.9	+	3	267	c.165C>T	c.(163-165)ctC>ctT	p.L55L	ASL_ENST00000395332.3_Silent_p.L55L|ASL_ENST00000380839.4_Silent_p.L55L|ASL_ENST00000395331.3_Silent_p.L55L	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	55					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.L55L(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CAGGGCTCCTCACCAAGGCCG	0.617																																							uc003tuo.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(163-165)CTC>CTT		argininosuccinate lyase isoform 1	L-Arginine(DB00125)						47.0	40.0	43.0					7																	65546942		2203	4300	6503	SO:0001819	synonymous_variant	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65546942C>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.165C>T	7.37:g.65546942C>T						ASL_uc011kdu.1_Silent_p.L55L|ASL_uc010kzx.1_Silent_p.L55L|ASL_uc011kdv.1_Silent_p.L55L|ASL_uc003tup.2_Silent_p.L55L|ASL_uc003tur.2_Silent_p.L55L|ASL_uc003tuq.2_Silent_p.L55L	p.L55L	NM_000048	NP_000039	P04424	ARLY_HUMAN			3	276	+			55					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Silent	SNP	ENST00000304874.9	37	c.165C>T	CCDS5531.1																																																																																				0.617	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		7	46	0	0	0	0.00308	0	7	46				
WRN	7486	broad.mit.edu	37	8	30977835	30977835	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr8:30977835C>T	ENST00000298139.5	+	21	2774	c.2525C>T	c.(2524-2526)cCt>cTt	p.P842L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	842	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.P842L(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TACGGTGCTCCTAAGGACATG	0.428			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	Ovarian(18;161 598 2706 14834 27543)	uc003xio.3		NA	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(2524-2526)CCT>CTT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							183.0	172.0	176.0					8																	30977835		2203	4299	6502	SO:0001583	missense	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30977835C>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2525C>T	8.37:g.30977835C>T	ENSP00000298139:p.Pro842Leu					WRN_uc010lvk.2_Missense_Mutation_p.P309L	p.P842L	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	21	3313	+		Breast(100;0.195)	842			Helicase C-terminal.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.2525C>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927379	0.92389	.	.	ENSG00000165392	ENST00000298139	T	0.80123	-1.34	5.76	5.76	0.90799	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95360	0.8494	H	0.99811	4.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97172	0.9845	10	0.87932	D	0	-21.0239	19.9192	0.97079	0.0:1.0:0.0:0.0	.	252;842	Q59F09;Q14191	.;WRN_HUMAN	L	842	ENSP00000298139:P842L	ENSP00000298139:P842L	P	+	2	0	WRN	31097377	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.468000	0.73551	2.882000	0.98803	0.655000	0.94253	CCT		0.428	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			14	77	0	0	0	0.00499	0	14	77				
PRKDC	5591	broad.mit.edu	37	8	48710830	48710830	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr8:48710830G>C	ENST00000314191.2	-	74	10479	c.10423C>G	c.(10423-10425)Cca>Gca	p.P3475A	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P3475A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3476	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.P3475A(1)|p.P3476A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTCTCCTCTGGATACCGTTCT	0.363								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(10426-10428)CCA>GCA	NHEJ	protein kinase, DNA-activated, catalytic							99.0	93.0	95.0					8																	48710830		1832	4084	5916	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48710830G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10423C>G	8.37:g.48710830G>C	ENSP00000313420:p.Pro3475Ala					PRKDC_uc003xqj.2_Missense_Mutation_p.P3476A|PRKDC_uc011ldh.1_Intron	p.P3476A	NM_006904	NP_008835	P78527	PRKDC_HUMAN			74	10483	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3476			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.10426C>G		.	.	.	.	.	.	.	.	.	.	G	16.37	3.104617	0.56291	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02916	4.2;4.11	5.38	4.49	0.54785	PIK-related kinase (1);	0.280658	0.33732	N	0.004601	T	0.06872	0.0175	M	0.77820	2.39	0.58432	D	0.999993	P;B	0.34977	0.478;0.151	B;B	0.36186	0.219;0.103	T	0.09952	-1.0651	10	0.46703	T	0.11	.	14.8259	0.70113	0.0708:0.0:0.9292:0.0	.	3475;3476	E7EUY0;P78527	.;PRKDC_HUMAN	A	3475	ENSP00000313420:P3475A;ENSP00000345182:P3475A	ENSP00000313420:P3475A	P	-	1	0	PRKDC	48873383	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.039000	0.57325	1.369000	0.46134	0.563000	0.77884	CCA		0.363	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	63	0	0	0	0.004672	0	3	63				
TEK	7010	broad.mit.edu	37	9	27204929	27204929	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr9:27204929G>A	ENST00000380036.4	+	14	2672	c.2230G>A	c.(2230-2232)Ggg>Agg	p.G744R	TEK_ENST00000406359.4_Missense_Mutation_p.G701R|TEK_ENST00000519097.1_Missense_Mutation_p.G597R	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	744					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G744R(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CCTCGGAGGGGGGAAGATGCT	0.507																																							uc003zqi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(2230-2232)GGG>AGG		TEK tyrosine kinase, endothelial precursor							157.0	136.0	143.0					9																	27204929		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27204929G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2230G>A	9.37:g.27204929G>A	ENSP00000369375:p.Gly744Arg					TEK_uc011lno.1_Missense_Mutation_p.G701R|TEK_uc011lnp.1_Missense_Mutation_p.G597R|TEK_uc003zqj.1_Missense_Mutation_p.G678R	p.G744R	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	14	2672	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	744			Extracellular (Potential).		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2230G>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189466	0.38707	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.73897	-0.78;-0.78;-0.79	6.02	5.13	0.70059	.	0.251671	0.27572	N	0.018773	T	0.76471	0.3992	L	0.50333	1.59	0.50813	D	0.999895	P;B;D;B	0.56521	0.89;0.03;0.976;0.037	B;B;P;B	0.51918	0.435;0.043;0.684;0.017	T	0.74904	-0.3505	10	0.31617	T	0.26	.	15.3264	0.74168	0.0666:0.0:0.9334:0.0	.	597;777;701;744	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	R	597;744;701	ENSP00000430686:G597R;ENSP00000369375:G744R;ENSP00000383977:G701R	ENSP00000369375:G744R	G	+	1	0	TEK	27194929	1.000000	0.71417	0.906000	0.35671	0.415000	0.31203	4.958000	0.63660	1.568000	0.49683	0.549000	0.68633	GGG		0.507	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			11	122	0	0	0	0.00245	0	11	122				
EQTN	54586	broad.mit.edu	37	9	27289707	27289707	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr9:27289707G>A	ENST00000380032.3	-	6	527	c.444C>T	c.(442-444)gtC>gtT	p.V148V	EQTN_ENST00000484994.1_5'Flank|EQTN_ENST00000537675.1_Silent_p.V119V	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	148					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)		p.V148V(1)									TATCATCCATGACCACTGCTG	0.353																																							uc003zql.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(442-444)GTC>GTT		Acr formation associated factor isoform 1							199.0	183.0	188.0					9																	27289707		2203	4300	6503	SO:0001819	synonymous_variant	54586					acrosomal membrane|integral to membrane		g.chr9:27289707G>A	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.444C>T	9.37:g.27289707G>A						C9orf11_uc011lnq.1_Silent_p.V119V	p.V148V	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN		OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)	6	528	-			148			Vesicular (Potential).		B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Silent	SNP	ENST00000380032.3	37	c.444C>T	CCDS35001.1																																																																																				0.353	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		4	24	0	0	0	0.000248	0	4	24				
STOML2	30968	broad.mit.edu	37	9	35102793	35102793	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr9:35102793G>C	ENST00000356493.5	-	2	135	c.73C>G	c.(73-75)Ccg>Gcg	p.P25A	STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Missense_Mutation_p.P25A	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	25					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)	p.P25A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCGCGGCGCGGAGCGCGGCCA	0.647																																							uc003zwi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(73-75)CCG>GCG		stomatin (EPB72)-like 2							29.0	39.0	36.0					9																	35102793		2203	4299	6502	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35102793G>C	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.73C>G	9.37:g.35102793G>C	ENSP00000348886:p.Pro25Ala					STOML2_uc003zwh.2_5'UTR|STOML2_uc003zwj.2_5'UTR|STOML2_uc011lou.1_Missense_Mutation_p.P25A|STOML2_uc003zwk.2_5'UTR	p.P25A	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	136	-			25					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.73C>G	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354523	0.41700	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.97941	-3.37;-4.62	5.41	3.58	0.41010	.	0.055097	0.64402	D	0.000001	D	0.92011	0.7469	N	0.08118	0	0.39556	D	0.969058	B;P	0.46987	0.018;0.888	B;B	0.41374	0.016;0.355	D	0.90092	0.4178	9	.	.	.	-12.2292	11.117	0.48266	0.07:0.1287:0.8013:0.0	.	25;25	B4E1K7;Q9UJZ1	.;STML2_HUMAN	A	25	ENSP00000348886:P25A;ENSP00000395743:P25A	.	P	-	1	0	STOML2	35092793	1.000000	0.71417	0.851000	0.33527	0.508000	0.34012	2.436000	0.44819	0.856000	0.35383	0.561000	0.74099	CCG		0.647	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		3	53	0	0	0	0.000248	0	3	53				
RNF38	152006	broad.mit.edu	37	9	36353229	36353229	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr9:36353229G>C	ENST00000259605.6	-	7	1116	c.1009C>G	c.(1009-1011)Cca>Gca	p.P337A	RNF38_ENST00000357058.3_Missense_Mutation_p.P254A|RNF38_ENST00000350199.4_Missense_Mutation_p.P254A|RNF38_ENST00000353739.4_Missense_Mutation_p.P287A|RNF38_ENST00000377885.2_Missense_Mutation_p.P254A|RNF38_ENST00000377877.4_Missense_Mutation_p.P261A	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	337	Pro-rich.				male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P337A(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GGAGCTGATGGAGGTAATGTT	0.438																																							uc003zzh.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1009-1011)CCA>GCA		ring finger protein 38 isoform 1							110.0	99.0	103.0					9																	36353229		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36353229G>C		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1009C>G	9.37:g.36353229G>C	ENSP00000259605:p.Pro337Ala					RNF38_uc003zzi.2_Missense_Mutation_p.P287A|RNF38_uc003zzj.2_Missense_Mutation_p.P254A|RNF38_uc003zzk.2_Missense_Mutation_p.P254A|RNF38_uc003zzl.2_Missense_Mutation_p.P261A|RNF38_uc003zzm.2_Missense_Mutation_p.P254A	p.P337A	NM_022781	NP_073618	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		7	1200	-			337			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	c.1009C>G	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538286	0.65085	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	5.84	5.84	0.93424	.	0.047820	0.85682	D	0.000000	T	0.36026	0.0952	L	0.49126	1.545	0.80722	D	1	B;B;P	0.35348	0.193;0.373;0.496	B;B;B	0.34242	0.036;0.133;0.178	T	0.06826	-1.0805	10	0.33940	T	0.23	-8.726	17.6284	0.88099	0.0:0.0:1.0:0.0	.	261;287;337	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	A	337;287;254;254;254;154;261;261	ENSP00000259605:P337A;ENSP00000335239:P287A;ENSP00000367117:P254A;ENSP00000349566:P254A;ENSP00000343947:P254A;ENSP00000367109:P261A	ENSP00000259605:P337A	P	-	1	0	RNF38	36343229	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.561000	0.82288	2.763000	0.94921	0.557000	0.71058	CCA		0.438	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		3	78	0	0	0	0.004672	0	3	78				
TAL2	6887	broad.mit.edu	37	9	108424891	108424891	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr9:108424891G>A	ENST00000334077.3	+	1	154	c.114G>A	c.(112-114)ctG>ctA	p.L38L		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	38	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)										ACAAAAAGCTGAGCAAAAATG	0.527			T	TRB@	T-ALL																																		uc004bct.2		NA		Dom	yes		9	9q31	6887	T	T-cell acute lymphocytic leukemia 2			L	TRB@		T-ALL		0					0						c.(112-114)CTG>CTA		T-cell acute lymphocytic leukemia 2							98.0	91.0	93.0					9																	108424891		2203	4300	6503	SO:0001819	synonymous_variant	6887				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:108424891G>A		CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"""Basic helix-loop-helix proteins"""	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.114G>A	9.37:g.108424891G>A							p.L38L	NM_005421	NP_005412	Q16559	TAL2_HUMAN			1	154	+			38			Helix-loop-helix motif.		A0AVI7	Silent	SNP	ENST00000334077.3	37	c.114G>A	CCDS6767.1																																																																																				0.527	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421		4	79	0	0	0	0.000248	0	4	79				
ARSD	414	broad.mit.edu	37	X	2825346	2825346	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chrX:2825346C>T	ENST00000381154.1	-	10	1823	c.1748G>A	c.(1747-1749)tGt>tAt	p.C583Y	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	583					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.C583Y(1)		large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGGCATGAACAGAACGGGAA	0.572																																							uc004cqy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1747-1749)TGT>TAT		arylsulfatase D isoform a precursor							40.0	37.0	38.0					X																	2825346		2203	4300	6503	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2825346C>T	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1748G>A	X.37:g.2825346C>T	ENSP00000370546:p.Cys583Tyr					ARSD_uc004cqz.1_RNA	p.C583Y	NM_001669	NP_001660	P51689	ARSD_HUMAN			10	1824	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	583					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.1748G>A	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	c	17.97	3.518999	0.64634	.	.	ENSG00000006756	ENST00000381154	D	0.91464	-2.85	3.03	3.03	0.35002	Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	U	0.000001	D	0.94003	0.8079	M	0.86028	2.79	0.54753	D	0.999986	D	0.64830	0.994	P	0.56648	0.803	D	0.94728	0.7907	10	0.87932	D	0	.	13.6815	0.62489	0.0:1.0:0.0:0.0	.	583	P51689	ARSD_HUMAN	Y	583	ENSP00000370546:C583Y	ENSP00000370546:C583Y	C	-	2	0	ARSD	2835346	1.000000	0.71417	0.003000	0.11579	0.002000	0.02628	6.322000	0.72886	1.164000	0.42652	0.521000	0.50471	TGT		0.572	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			14	73	0	0	0	0.004007	0	14	73				
KDM6A	7403	broad.mit.edu	37	X	44938572	44938572	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chrX:44938572C>T	ENST00000377967.4	+	20	3161	c.3120C>T	c.(3118-3120)gcC>gcT	p.A1040A	KDM6A_ENST00000382899.4_Silent_p.A1047A|KDM6A_ENST00000536777.1_Silent_p.A995A|KDM6A_ENST00000543216.1_Silent_p.A961A	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1040	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.A1040A(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGTACCAGGCCTCCTCATTCC	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NA		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		7	Whole gene deletion(6)|Substitution - coding silent(1)		oesophagus(2)|breast(2)|pancreas(2)|lung(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(3118-3120)GCC>GCT		ubiquitously transcribed tetratricopeptide							124.0	100.0	108.0					X																	44938572		2203	4300	6503	SO:0001819	synonymous_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44938572C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3120C>T	X.37:g.44938572C>T						KDM6A_uc010nhk.2_Silent_p.A1006A|KDM6A_uc011mkz.1_Silent_p.A1092A|KDM6A_uc011mla.1_Silent_p.A995A|KDM6A_uc011mlb.1_Silent_p.A1047A|KDM6A_uc011mlc.1_Silent_p.A744A|KDM6A_uc011mld.1_Silent_p.A679A	p.A1040A	NM_021140	NP_066963	O15550	KDM6A_HUMAN			20	3495	+			1040					Q52LL9|Q5JVQ7	Silent	SNP	ENST00000377967.4	37	c.3120C>T	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	C	9.544	1.114143	0.20795	.	.	ENSG00000147050	ENST00000414389;ENST00000433797	.	.	.	5.6	1.87	0.25490	.	.	.	.	.	T	0.58821	0.2149	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53795	-0.8388	4	.	.	.	-9.0336	9.9864	0.41843	0.0:0.7158:0.0:0.2842	.	.	.	.	F	638;683	.	.	L	+	1	0	KDM6A	44823516	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	0.361000	0.20267	0.555000	0.29079	0.594000	0.82650	CTC		0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		13	51	0	0	0	0.00245	0	13	51				
CXCR3	2833	broad.mit.edu	37	X	70836739	70836739	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chrX:70836739C>T	ENST00000373693.3	-	2	650	c.583G>A	c.(583-585)Gac>Aac	p.D195N	CXCR3_ENST00000373691.4_Missense_Mutation_p.D242N	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	195					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.D195N(1)		breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					AGGCGCTCGTCGTGGTGGGCC	0.687																																							uc004eaf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(583-585)GAC>AAC		chemokine (C-X-C motif) receptor 3 isoform A							37.0	32.0	34.0					X																	70836739		2201	4297	6498	SO:0001583	missense	2833				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	g.chrX:70836739C>T	U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.583G>A	X.37:g.70836739C>T	ENSP00000362797:p.Asp195Asn					BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Missense_Mutation_p.D242N	p.D195N	NM_001504	NP_001495	P49682	CXCR3_HUMAN			2	651	-	Renal(35;0.156)		195			Extracellular (Potential).		B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	ENST00000373693.3	37	c.583G>A	CCDS14416.1	.	.	.	.	.	.	.	.	.	.	C	4.223	0.040215	0.08148	.	.	ENSG00000186810	ENST00000373691;ENST00000373693;ENST00000373687	T;T	0.71817	-0.6;-0.6	5.15	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.804557	0.11571	N	0.550803	T	0.54351	0.1853	N	0.16266	0.395	0.09310	N	1	B;P	0.43169	0.452;0.8	B;B	0.39379	0.041;0.298	T	0.30357	-0.9981	10	0.20046	T	0.44	.	12.2187	0.54420	0.0:0.8315:0.1685:0.0	.	242;195	P49682-2;P49682	.;CXCR3_HUMAN	N	242;195;195	ENSP00000362795:D242N;ENSP00000362797:D195N	ENSP00000362791:D195N	D	-	1	0	CXCR3	70753464	0.901000	0.30685	0.004000	0.12327	0.000000	0.00434	3.255000	0.51484	1.138000	0.42230	-0.337000	0.08149	GAC		0.687	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			5	27	0	0	0	0.006214	0	5	27				
ENOX2	10495	broad.mit.edu	37	X	129771261	129771261	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chrX:129771261T>C	ENST00000370927.1	-	9	1361	c.1340A>G	c.(1339-1341)gAc>gGc	p.D447G	ENOX2_ENST00000394363.1_Missense_Mutation_p.D418G|ENOX2_ENST00000338144.3_Missense_Mutation_p.D447G|ENOX2_ENST00000370935.1_Missense_Mutation_p.D418G			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	447					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.D447G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTTGTTAGGGTCATCTTCTCT	0.473																																					Ovarian(101;828 1506 2951 9500 35258)	Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1339-1341)GAC>GGC		ecto-NOX disulfide-thiol exchanger 2 isoform b							384.0	312.0	336.0					X																	129771261		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129771261T>C	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1340A>G	X.37:g.129771261T>C	ENSP00000359965:p.Asp447Gly					ENOX2_uc004evx.2_Missense_Mutation_p.D418G|ENOX2_uc004evy.2_Missense_Mutation_p.D418G|ENOX2_uc004evv.2_Missense_Mutation_p.D272G	p.D447G	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			12	1758	-			447			Potential.		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1340A>G	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.729452	0.30684	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	T;T	0.29655	1.56;1.56	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	L	0.60455	1.87	0.39456	D	0.967482	P;P	0.47302	0.594;0.893	B;B	0.37692	0.164;0.256	T	0.11446	-1.0587	9	.	.	.	-18.6419	6.4826	0.22071	0.0:0.1061:0.0:0.8939	.	447;475	Q16206;A4QPE1	ENOX2_HUMAN;.	G	418;418;447;418;475;447	ENSP00000337146:D447G;ENSP00000359965:D447G	.	D	-	2	0	ENOX2	129598942	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.028000	0.41088	1.875000	0.54330	0.486000	0.48141	GAC		0.473	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		4	345	0	0	0	0.000602	0	4	345				
DCT	1638	broad.mit.edu	37	13	95121039	95121040	+	Frame_Shift_Ins	INS	-	-	A	rs199940803		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr13:95121039_95121040insA	ENST00000377028.5	-	2	968_969	c.555_556insT	c.(553-558)tttgtgfs	p.V186fs	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Frame_Shift_Ins_p.V186fs	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	186					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGGAGCCACACAAAAAAATCAT	0.45																																							uc001vlv.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(553-558)TTTGTGfs		dopachrome tautomerase isoform 1																																				SO:0001589	frameshift_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121039_95121040insA	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.556dupT	13.37:g.95121046_95121046dupA	ENSP00000366227:p.Val186fs					DCT_uc010afh.2_Frame_Shift_Ins_p.F185fs	p.F185fs	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	982_983	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	185_186			Lumenal, melanosome (Potential).		Q09GT4	Frame_Shift_Ins	INS	ENST00000377028.5	37	c.555_556insT	CCDS9470.1																																																																																				0.450	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			35	200	NA	NA	NA	NA	NA	35	200	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139905682	139905683	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr5:139905682_139905683delAG	ENST00000360839.2	+	26	4748_4749	c.4594_4595delAG	c.(4594-4596)aggfs	p.R1532fs	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_5'Flank|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.R1532fs|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.R1532fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1532						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGAAAAAAAGGGCCAATGTG	0.421																																							uc003lfs.1		NA																	0				ovary(6)	6						c.(4594-4596)AGGfs		ANKHD1-EIF4EBP3 protein																																				SO:0001589	frameshift_variant	404734					cytoplasm|nucleus	RNA binding	g.chr5:139905682_139905683delAG	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4594_4595delAG	5.37:g.139905682_139905683delAG	ENSP00000354085:p.Arg1532fs					ANKHD1_uc003lfr.2_Frame_Shift_Del_p.R1532fs|ANKHD1_uc003lfu.1_Frame_Shift_Del_p.R1012fs|ANKHD1-EIF4EBP3_uc011czh.1_Frame_Shift_Del_p.R271fs|ANKHD1_uc003lfw.2_Frame_Shift_Del_p.R170fs|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	p.R1532fs	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4718_4719	+			1532					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	c.4594_4595delAG	CCDS4225.1																																																																																				0.421	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		24	166	NA	NA	NA	NA	NA	24	166	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438|rs121913439|rs397517099|rs397517098|rs397517097|rs397517096|rs397517095|rs397517094|rs121913435|rs121913436|rs121913437|rs397509368|rs121913229|rs121913441|rs121913440|rs121913442|rs121913423|rs121913422|rs121913421|rs121913427|rs121913426|rs121913425|rs121913424		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	-	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaggaattaagagaagca>aaa	p.ELREA746del	EGFR_ENST00000455089.1_In_Frame_Del_p.ELREA701del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.ELREA693del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		ELREAT -> A (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|ELREATS -> D (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2	E746_A750del(NCIH1650_LUNG)|E746K(HCC827_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1576	Deletion - In frame(1161)|Complex - deletion inframe(388)|Substitution - Missense(16)|Insertion - In frame(10)|Complex - compound substitution(1)	p.E746_A750del(1613)|p.L747_P753>S(110)|p.L747_A750>P(74)|p.E746_S752>V(67)|p.L747_T751del(62)|p.E746_T751>A(30)|p.L747_S752del(28)|p.L747_T751>P(20)|p.E746_T751del(18)|p.L747_E749del(18)|p.K745_E749del(14)|p.E746_E749del(12)|p.E746_S752del(10)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_P753>VS(6)|p.E746_A750>IP(5)|p.L747_T751>Q(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.E746_A750>QP(4)|p.E746V(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.L747S(3)|p.L747_S752>Q(3)|p.A750P(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.E746_S752>T(2)|p.A750_E758>P(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_T751>L(2)|p.E746K(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.K745_E746insVPVAIK(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.E746_T751>P(1)|p.E746del(1)|p.A750_K754del(1)|p.L747_S752>QH(1)|p.L747P(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_T751>A(1)|p.E746_P753>LS(1)|p.E746_P753>VQ(1)|p.E746_T751>LS(1)|p.A750_E758del(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746I(1)|p.L747_K754del(1)|p.R748I(1)|p.E746_A750>KP(1)|p.E746_A750>EP(1)	lung(1549)|upper_aerodigestive_tract(9)|salivary_gland(6)|thyroid(3)|large_intestine(2)|breast(2)|ovary(2)|central_nervous_system(1)|prostate(1)|kidney(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2233-2250)AAGGAATTAAGAGAAGCA>AAA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55242465_55242479delGGAATTAAGAGAAGC		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2235_2249delGGAATTAAGAGAAGC	7.37:g.55242465_55242479delGGAATTAAGAGAAGC	ENSP00000275493:p.Glu746_Ala750del	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_In_Frame_Del_p.ELREA701del|EGFR_uc011kco.1_In_Frame_Del_p.ELREA693del	p.ELREA746del	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2481_2495	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		746_750		Missing (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Del	DEL	ENST00000275493.2	37	c.2235_2249delGGAATTAAGAGAAGC	CCDS5514.1																																																																																				0.479	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		7	145	NA	NA	NA	NA	NA	7	145	---	---	---	---
